Linked Data
ClinVar Variation Id:
91361
ClinVar RCV Id:
RCV000164809
RCV000409570
RCV000485945
RCV000524477
RCV001357098
RCV003149758
RCV003997191
dbSNP Id:
rs587779342
gnomAD v2:
7-6038830-T-G
gnomAD v4:
7-5999199-T-G
ERepo:
CA012420/MONDO:0007356/139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5999199T>G , CM000669.2:g.5999199T>G | GRCh38 |
| NC_000007.13:g.6038830T>G , CM000669.1:g.6038830T>G | GRCh37 |
| NC_000007.12:g.6005356T>G | NCBI36 |
| NG_008466.1:g.14908A>C , LRG_161:g.14908A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*208A>C | ENSP00000514615.2:n.*208A>C | |
| ENST00000699840.2:c.611A>C | ENSP00000514638.2:p.Gln204Pro | |
| ENST00000699930.2:c.597+17A>C | ENSP00000514695.2:n.597+17A>C | |
| ENST00000406569.8:c.614A>C | ENSP00000514464.1:p.Gln205Pro | |
| ENST00000644110.2:c.*208A>C | ENSP00000496392.2:n.*208A>C | |
| ENST00000699752.1:c.614A>C | ENSP00000514561.1:p.Gln205Pro | |
| ENST00000699753.1:c.*13A>C | ENSP00000514562.1:n.*13A>C | |
| ENST00000699754.1:c.614A>C | ENSP00000514563.1:p.Gln205Pro | |
| ENST00000699755.1:c.*13A>C | ENSP00000514564.1:n.*13A>C | |
| ENST00000699756.1:c.*201A>C | ENSP00000514565.1:n.*201A>C | |
| ENST00000699757.1:c.63A>C | ENSP00000514566.1:p.Ser21= | |
| ENST00000699758.1:c.327A>C | ENSP00000514567.1:p.Ser109= | |
| ENST00000699759.1:n.686A>C | ||
| ENST00000699760.1:c.296A>C | ENSP00000514568.1:p.Gln99Pro | |
| ENST00000699761.1:c.209A>C | ENSP00000514569.1:p.Gln70Pro | |
| ENST00000699762.1:c.133-1776A>C | ENSP00000514570.1:n.133-1776A>C | |
| ENST00000699763.1:c.209A>C | ENSP00000514571.1:p.Gln70Pro | |
| ENST00000699764.1:c.614A>C | ENSP00000514572.1:p.Gln205Pro | |
| ENST00000699765.1:c.296A>C | ENSP00000514573.1:p.Gln99Pro | |
| ENST00000699766.1:c.614A>C | ENSP00000514574.1:p.Gln205Pro | |
| ENST00000699767.1:c.614A>C | ENSP00000514575.1:p.Gln205Pro | |
| ENST00000699768.1:c.614A>C | ENSP00000514576.1:p.Gln205Pro | |
| ENST00000699811.1:c.209A>C | ENSP00000514614.1:p.Gln70Pro | |
| ENST00000699813.1:n.727A>C | ||
| ENST00000699814.1:c.435A>C | ||
| ENST00000699815.1:c.*115A>C | ENSP00000514616.1:n.*115A>C | |
| ENST00000699816.1:c.209A>C | ENSP00000514617.1:p.Gln70Pro | |
| ENST00000699817.1:c.*208A>C | ENSP00000514618.1:n.*208A>C | |
| ENST00000699818.1:c.209A>C | ENSP00000514619.1:p.Gln70Pro | |
| ENST00000699819.1:c.147A>C | ENSP00000514620.1:p.Ser49= | |
| ENST00000699820.1:c.614A>C | ENSP00000514621.1:p.Gln205Pro | |
| ENST00000699821.1:c.209A>C | ENSP00000514622.1:p.Gln70Pro | |
| ENST00000699822.1:c.*66A>C | ENSP00000514623.1:n.*66A>C | |
| ENST00000699823.1:c.209A>C | ENSP00000514624.1:p.Gln70Pro | |
| ENST00000699824.1:c.*117A>C | ENSP00000514625.1:n.*117A>C | |
| ENST00000699825.1:c.209A>C | ENSP00000514626.1:p.Gln70Pro | |
| ENST00000699826.1:c.*13A>C | ENSP00000514627.1:n.*13A>C | |
| ENST00000699827.1:c.538-1776A>C | ENSP00000514628.1:n.538-1776A>C | |
| ENST00000699828.1:c.614A>C | ENSP00000514629.1:p.Gln205Pro | |
| ENST00000699829.1:c.*115A>C | ENSP00000514630.1:n.*115A>C | |
| ENST00000699830.1:c.*13A>C | ENSP00000514631.1:n.*13A>C | |
| ENST00000699831.1:n.526A>C | ||
| ENST00000699832.1:n.897A>C | ||
| ENST00000699833.1:n.694A>C | ||
| ENST00000699834.1:n.807+13A>C | ||
| ENST00000699837.1:c.209A>C | ENSP00000514635.1:p.Gln70Pro | |
| ENST00000699838.1:c.*514A>C | ENSP00000514636.1:n.*514A>C | |
| ENST00000699839.1:c.800A>C | ENSP00000514637.1:p.Gln267Pro | |
| ENST00000699840.1:c.611A>C | ENSP00000514638.1:p.Gln204Pro | |
| ENST00000699916.1:c.162A>C | ENSP00000514684.1:p.Ser54= | |
| ENST00000699917.1:c.*63A>C | ENSP00000514685.1:n.*63A>C | |
| ENST00000699918.1:c.*115A>C | ENSP00000514686.1:n.*115A>C | |
| ENST00000699919.1:c.*201A>C | ENSP00000514687.1:n.*201A>C | |
| ENST00000699920.1:c.*250A>C | ENSP00000514688.1:n.*250A>C | |
| ENST00000699928.1:c.614A>C | ENSP00000514693.1:p.Gln205Pro | |
| ENST00000699929.1:c.*13A>C | ENSP00000514694.1:n.*13A>C | |
| ENST00000699930.1:c.597+17A>C | ENSP00000514695.1:n.597+17A>C | |
| ENST00000699931.1:n.725A>C | ||
| ENST00000699932.1:c.614A>C | ENSP00000514696.1:p.Gln205Pro | |
| ENST00000699933.1:n.694A>C | ||
| ENST00000699951.1:c.614A>C | ENSP00000514706.1:p.Gln205Pro | |
| ENST00000699952.1:c.614A>C | ENSP00000514707.1:p.Gln205Pro | |
| ENST00000699953.1:c.614A>C | ENSP00000514708.1:p.Gln205Pro | |
| ENST00000699954.1:c.*13A>C | ENSP00000514709.1:n.*13A>C | |
| ENST00000265849.12:c.614A>C MANE Select | ENSP00000265849.7:p.Gln205Pro | |
| ENST00000642292.1:c.209A>C | ENSP00000495524.1:p.Gln70Pro | |
| ENST00000642456.1:c.209A>C | ENSP00000493814.1:p.Gln70Pro | |
| ENST00000643595.1:c.*13A>C | ENSP00000494497.1:n.*13A>C | |
| ENST00000644110.1:c.296A>C | ENSP00000496392.1:p.Gln99Pro | |
| ENST00000265849.11:c.614A>C | ENSP00000265849.7:p.Gln205Pro | |
| ENST00000382321.5:c.614A>C | ENSP00000371758.4:p.Gln205Pro | |
| ENST00000406569.7:n.614A>C | ||
| ENST00000441476.6:c.296A>C | ENSP00000392843.2:p.Gln99Pro | |
| ENST00000469652.1:n.62+6794A>C | ||
| NM_000535.5:c.614A>C , LRG_161t1:c.614A>C | NP_000526.1:p.Gln205Pro | |
| NR_003085.2:n.696A>C | ||
| XM_006715742.2:c.608A>C | XP_006715805.1:p.Gln203Pro | |
| XM_011515427.1:c.659A>C | XP_011513729.1:p.Gln220Pro | |
| XM_011515428.1:c.659A>C | XP_011513730.1:p.Gln220Pro | |
| XM_011515429.1:c.296A>C | XP_011513731.1:p.Gln99Pro | |
| XM_011515430.1:c.296A>C | XP_011513732.1:p.Gln99Pro | |
| NM_000535.6:c.614A>C | NP_000526.2:p.Gln205Pro | |
| NM_001322003.1:c.209A>C | NP_001308932.1:p.Gln70Pro | |
| NM_001322004.1:c.209A>C | NP_001308933.1:p.Gln70Pro | |
| NM_001322005.1:c.209A>C | NP_001308934.1:p.Gln70Pro | |
| NM_001322006.1:c.614A>C | NP_001308935.1:p.Gln205Pro | |
| NM_001322007.1:c.296A>C | NP_001308936.1:p.Gln99Pro | |
| NM_001322008.1:c.296A>C | NP_001308937.1:p.Gln99Pro | |
| NM_001322009.1:c.209A>C | NP_001308938.1:p.Gln70Pro | |
| NM_001322010.1:c.209A>C | NP_001308939.1:p.Gln70Pro | |
| NM_001322011.1:c.-320A>C | NP_001308940.1:n.-320A>C | |
| NM_001322012.1:c.-320A>C | NP_001308941.1:n.-320A>C | |
| NM_001322013.1:c.133-1776A>C | NP_001308942.1:n.133-1776A>C | |
| NM_001322014.1:c.614A>C | NP_001308943.1:p.Gln205Pro | |
| NM_001322015.1:c.305A>C | NP_001308944.1:p.Gln102Pro | |
| NR_136154.1:n.701A>C | ||
| XM_017012342.2:c.-220A>C | XP_016867831.1:n.-220A>C | |
| XM_024446800.1:c.209A>C | XP_024302568.1:p.Gln70Pro | |
| NM_000535.7:c.614A>C MANE Select | NP_000526.2:p.Gln205Pro | |
| NM_001322003.2:c.209A>C | NP_001308932.1:p.Gln70Pro | |
| NM_001322004.2:c.209A>C | NP_001308933.1:p.Gln70Pro | |
| NM_001322005.2:c.209A>C | NP_001308934.1:p.Gln70Pro | |
| NM_001322006.2:c.614A>C | NP_001308935.1:p.Gln205Pro | |
| NM_001322008.2:c.296A>C | NP_001308937.1:p.Gln99Pro | |
| NM_001322009.2:c.209A>C | NP_001308938.1:p.Gln70Pro | |
| NM_001322010.2:c.209A>C | NP_001308939.1:p.Gln70Pro | |
| NM_001322011.2:c.-320A>C | NP_001308940.1:n.-320A>C | |
| NM_001322012.2:c.-320A>C | NP_001308941.1:n.-320A>C | |
| NM_001322013.2:c.133-1776A>C | NP_001308942.1:n.133-1776A>C | |
| NM_001322014.2:c.614A>C | NP_001308943.1:p.Gln205Pro | |
| NM_001322015.2:c.305A>C | NP_001308944.1:p.Gln102Pro | |
| NM_001322007.2:c.296A>C | NP_001308936.1:p.Gln99Pro |