Linked Data
ClinVar Variation Id:
127754
ClinVar RCV Id:
RCV000115651
RCV000229947
RCV000212859
RCV001030722
RCV001199850
RCV003467050
RCV003997284
RCV003421993
dbSNP Id:
rs587780039
ExAC:
7:6027227 G / A
gnomAD v2:
7-6027227-G-A
gnomAD v3:
7-5987596-G-A
gnomAD v4:
7-5987596-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987596G>A , CM000669.2:g.5987596G>A | GRCh38 |
| NC_000007.13:g.6027227G>A , CM000669.1:g.6027227G>A | GRCh37 |
| NC_000007.12:g.5993753G>A | NCBI36 |
| NG_008466.1:g.26511C>T , LRG_161:g.26511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*565C>T | ENSP00000514615.2:n.*565C>T | |
| ENST00000699840.2:c.1166C>T | ENSP00000514638.2:p.Ala389Val | |
| ENST00000699930.2:c.1061C>T | ENSP00000514695.2:p.Ala354Val | |
| ENST00000406569.8:c.1169C>T | ENSP00000514464.1:p.Ala390Val | |
| ENST00000644110.2:c.*763C>T | ENSP00000496392.2:n.*763C>T | |
| ENST00000699752.1:c.1013C>T | ENSP00000514561.1:p.Ala338Val | |
| ENST00000699753.1:c.*590C>T | ENSP00000514562.1:n.*590C>T | |
| ENST00000699754.1:c.971C>T | ENSP00000514563.1:p.Ala324Val | |
| ENST00000699755.1:c.*568C>T | ENSP00000514564.1:n.*568C>T | |
| ENST00000699756.1:c.*756C>T | ENSP00000514565.1:n.*756C>T | |
| ENST00000699757.1:c.*426C>T | ENSP00000514566.1:n.*426C>T | |
| ENST00000699758.1:c.*426C>T | ENSP00000514567.1:n.*426C>T | |
| ENST00000699759.1:n.2023C>T | ||
| ENST00000699760.1:c.851C>T | ENSP00000514568.1:p.Ala284Val | |
| ENST00000699761.1:c.764C>T | ENSP00000514569.1:p.Ala255Val | |
| ENST00000699762.1:c.596C>T | ENSP00000514570.1:p.Ala199Val | |
| ENST00000699763.1:c.*259C>T | ENSP00000514571.1:n.*259C>T | |
| ENST00000699764.1:c.1169C>T | ENSP00000514572.1:p.Ala390Val | |
| ENST00000699765.1:c.*265C>T | ENSP00000514573.1:n.*265C>T | |
| ENST00000699766.1:c.1169C>T | ENSP00000514574.1:p.Ala390Val | |
| ENST00000699767.1:c.1169C>T | ENSP00000514575.1:p.Ala390Val | |
| ENST00000699768.1:c.1169C>T | ENSP00000514576.1:p.Ala390Val | |
| ENST00000699811.1:c.764C>T | ENSP00000514614.1:p.Ala255Val | |
| ENST00000699813.1:n.1282C>T | ||
| ENST00000699814.1:c.792C>T | ||
| ENST00000699815.1:c.*700C>T | ENSP00000514616.1:n.*700C>T | |
| ENST00000699816.1:c.*59C>T | ENSP00000514617.1:n.*59C>T | |
| ENST00000699817.1:c.*763C>T | ENSP00000514618.1:n.*763C>T | |
| ENST00000699818.1:c.764C>T | ENSP00000514619.1:p.Ala255Val | |
| ENST00000699819.1:c.*326C>T | ENSP00000514620.1:n.*326C>T | |
| ENST00000699820.1:c.1144+2204C>T | ENSP00000514621.1:n.1144+2204C>T | |
| ENST00000699821.1:c.764C>T | ENSP00000514622.1:p.Ala255Val | |
| ENST00000699822.1:c.*621C>T | ENSP00000514623.1:n.*621C>T | |
| ENST00000699823.1:c.764C>T | ENSP00000514624.1:p.Ala255Val | |
| ENST00000699824.1:c.*672C>T | ENSP00000514625.1:n.*672C>T | |
| ENST00000699825.1:c.608C>T | ENSP00000514626.1:p.Ala203Val | |
| ENST00000699826.1:c.*568C>T | ENSP00000514627.1:n.*568C>T | |
| ENST00000699827.1:c.1001C>T | ENSP00000514628.1:p.Ala334Val | |
| ENST00000699828.1:c.*259C>T | ENSP00000514629.1:n.*259C>T | |
| ENST00000699829.1:c.*670C>T | ENSP00000514630.1:n.*670C>T | |
| ENST00000699830.1:c.*568C>T | ENSP00000514631.1:n.*568C>T | |
| ENST00000699833.1:n.2941C>T | ||
| ENST00000699837.1:c.764C>T | ENSP00000514635.1:p.Ala255Val | |
| ENST00000699838.1:c.*1069C>T | ENSP00000514636.1:n.*1069C>T | |
| ENST00000699839.1:c.1355C>T | ENSP00000514637.1:p.Ala452Val | |
| ENST00000699840.1:c.1166C>T | ENSP00000514638.1:p.Ala389Val | |
| ENST00000699916.1:c.*426C>T | ENSP00000514684.1:n.*426C>T | |
| ENST00000699917.1:c.*618C>T | ENSP00000514685.1:n.*618C>T | |
| ENST00000699918.1:c.*670C>T | ENSP00000514686.1:n.*670C>T | |
| ENST00000699919.1:c.*756C>T | ENSP00000514687.1:n.*756C>T | |
| ENST00000699920.1:c.*805C>T | ENSP00000514688.1:n.*805C>T | |
| ENST00000699928.1:c.988+4377C>T | ENSP00000514693.1:n.988+4377C>T | |
| ENST00000699929.1:c.*470C>T | ENSP00000514694.1:n.*470C>T | |
| ENST00000699930.1:c.1061C>T | ENSP00000514695.1:p.Ala354Val | |
| ENST00000699931.1:n.2597C>T | ||
| ENST00000699932.1:c.*387C>T | ENSP00000514696.1:n.*387C>T | |
| ENST00000699951.1:c.*265C>T | ENSP00000514706.1:n.*265C>T | |
| ENST00000699952.1:c.803+9730C>T | ENSP00000514707.1:n.803+9730C>T | |
| ENST00000699953.1:c.*276C>T | ENSP00000514708.1:n.*276C>T | |
| ENST00000699954.1:c.*470C>T | ENSP00000514709.1:n.*470C>T | |
| ENST00000265849.12:c.1169C>T MANE Select | ENSP00000265849.7:p.Ala390Val | |
| ENST00000642292.1:c.764C>T | ENSP00000495524.1:p.Ala255Val | |
| ENST00000642456.1:c.764C>T | ENSP00000493814.1:p.Ala255Val | |
| ENST00000643595.1:c.*568C>T | ENSP00000494497.1:n.*568C>T | |
| ENST00000644110.1:c.851C>T | ENSP00000496392.1:p.Ala284Val | |
| ENST00000265849.11:c.1169C>T | ENSP00000265849.7:p.Ala390Val | |
| ENST00000382321.5:c.804-4605C>T | ENSP00000371758.4:n.804-4605C>T | |
| ENST00000406569.7:n.1169C>T | ||
| ENST00000441476.6:c.851C>T | ENSP00000392843.2:p.Ala284Val | |
| ENST00000469652.1:n.63-4691C>T | ||
| NM_000535.5:c.1169C>T , LRG_161t1:c.1169C>T | NP_000526.1:p.Ala390Val | |
| NR_003085.2:n.1251C>T | ||
| XM_006715742.2:c.1163C>T | XP_006715805.1:p.Ala388Val | |
| XM_006715744.2:c.236C>T | XP_006715807.1:p.Ala79Val | |
| XM_011515427.1:c.1214C>T | XP_011513729.1:p.Ala405Val | |
| XM_011515428.1:c.1058C>T | XP_011513730.1:p.Ala353Val | |
| XM_011515429.1:c.851C>T | XP_011513731.1:p.Ala284Val | |
| XM_011515430.1:c.851C>T | XP_011513732.1:p.Ala284Val | |
| NM_000535.6:c.1169C>T | NP_000526.2:p.Ala390Val | |
| NM_001322003.1:c.764C>T | NP_001308932.1:p.Ala255Val | |
| NM_001322004.1:c.764C>T | NP_001308933.1:p.Ala255Val | |
| NM_001322005.1:c.764C>T | NP_001308934.1:p.Ala255Val | |
| NM_001322006.1:c.1013C>T | NP_001308935.1:p.Ala338Val | |
| NM_001322007.1:c.851C>T | NP_001308936.1:p.Ala284Val | |
| NM_001322008.1:c.851C>T | NP_001308937.1:p.Ala284Val | |
| NM_001322009.1:c.764C>T | NP_001308938.1:p.Ala255Val | |
| NM_001322010.1:c.608C>T | NP_001308939.1:p.Ala203Val | |
| NM_001322011.1:c.236C>T | NP_001308940.1:p.Ala79Val | |
| NM_001322012.1:c.236C>T | NP_001308941.1:p.Ala79Val | |
| NM_001322013.1:c.596C>T | NP_001308942.1:p.Ala199Val | |
| NM_001322014.1:c.1169C>T | NP_001308943.1:p.Ala390Val | |
| NM_001322015.1:c.860C>T | NP_001308944.1:p.Ala287Val | |
| NR_136154.1:n.1256C>T | ||
| XM_006715744.4:c.236C>T | XP_006715807.1:p.Ala79Val | |
| XM_017012342.2:c.236C>T | XP_016867831.1:p.Ala79Val | |
| XM_024446800.1:c.608C>T | XP_024302568.1:p.Ala203Val | |
| NM_000535.7:c.1169C>T MANE Select | NP_000526.2:p.Ala390Val | |
| NM_001322003.2:c.764C>T | NP_001308932.1:p.Ala255Val | |
| NM_001322004.2:c.764C>T | NP_001308933.1:p.Ala255Val | |
| NM_001322005.2:c.764C>T | NP_001308934.1:p.Ala255Val | |
| NM_001322006.2:c.1013C>T | NP_001308935.1:p.Ala338Val | |
| NM_001322008.2:c.851C>T | NP_001308937.1:p.Ala284Val | |
| NM_001322009.2:c.764C>T | NP_001308938.1:p.Ala255Val | |
| NM_001322010.2:c.608C>T | NP_001308939.1:p.Ala203Val | |
| NM_001322011.2:c.236C>T | NP_001308940.1:p.Ala79Val | |
| NM_001322012.2:c.236C>T | NP_001308941.1:p.Ala79Val | |
| NM_001322013.2:c.596C>T | NP_001308942.1:p.Ala199Val | |
| NM_001322014.2:c.1169C>T | NP_001308943.1:p.Ala390Val | |
| NM_001322015.2:c.860C>T | NP_001308944.1:p.Ala287Val | |
| NM_001322007.2:c.851C>T | NP_001308936.1:p.Ala284Val |