Linked Data
ClinVar Variation Id:
135065
dbSNP Id:
rs2228006
ExAC:
7:6026775 T / C
gnomAD v2:
7-6026775-T-C
gnomAD v3:
7-5987144-T-C
gnomAD v4:
7-5987144-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987144T>C , CM000669.2:g.5987144T>C | GRCh38 |
| NC_000007.13:g.6026775T>C , CM000669.1:g.6026775T>C | GRCh37 |
| NC_000007.12:g.5993301T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1017A>G | ENSP00000514615.2:n.*1017A>G | |
| ENST00000699840.2:c.1618A>G | ENSP00000514638.2:p.Lys540Glu | |
| ENST00000699930.2:c.1513A>G | ENSP00000514695.2:p.Lys505Glu | |
| ENST00000406569.8:c.1621A>G | ENSP00000514464.1:p.Lys541Glu | |
| ENST00000644110.2:c.*1215A>G | ENSP00000496392.2:n.*1215A>G | |
| ENST00000699752.1:c.1465A>G | ENSP00000514561.1:p.Lys489Glu | |
| ENST00000699753.1:c.*1042A>G | ENSP00000514562.1:n.*1042A>G | |
| ENST00000699754.1:c.1423A>G | ENSP00000514563.1:p.Lys475Glu | |
| ENST00000699755.1:c.*1020A>G | ENSP00000514564.1:n.*1020A>G | |
| ENST00000699756.1:c.*1208A>G | ENSP00000514565.1:n.*1208A>G | |
| ENST00000699757.1:c.*878A>G | ENSP00000514566.1:n.*878A>G | |
| ENST00000699758.1:c.*878A>G | ENSP00000514567.1:n.*878A>G | |
| ENST00000699759.1:n.2475A>G | ||
| ENST00000699760.1:c.1303A>G | ENSP00000514568.1:p.Lys435Glu | |
| ENST00000699761.1:c.1216A>G | ENSP00000514569.1:p.Lys406Glu | |
| ENST00000699762.1:c.1048A>G | ENSP00000514570.1:p.Lys350Glu | |
| ENST00000699763.1:c.*711A>G | ENSP00000514571.1:n.*711A>G | |
| ENST00000699764.1:c.1554-22A>G | ENSP00000514572.1:n.1554-22A>G | |
| ENST00000699765.1:c.*717A>G | ENSP00000514573.1:n.*717A>G | |
| ENST00000699766.1:c.1621A>G | ENSP00000514574.1:p.Lys541Glu | |
| ENST00000699767.1:c.1621A>G | ENSP00000514575.1:p.Lys541Glu | |
| ENST00000699768.1:c.1621A>G | ENSP00000514576.1:p.Lys541Glu | |
| ENST00000699811.1:c.1216A>G | ENSP00000514614.1:p.Lys406Glu | |
| ENST00000699813.1:n.1734A>G | ||
| ENST00000699814.1:c.1244A>G | ||
| ENST00000699815.1:c.*1152A>G | ENSP00000514616.1:n.*1152A>G | |
| ENST00000699816.1:c.*511A>G | ENSP00000514617.1:n.*511A>G | |
| ENST00000699817.1:c.*1215A>G | ENSP00000514618.1:n.*1215A>G | |
| ENST00000699818.1:c.1216A>G | ENSP00000514619.1:p.Lys406Glu | |
| ENST00000699819.1:c.*778A>G | ENSP00000514620.1:n.*778A>G | |
| ENST00000699820.1:c.1144+2656A>G | ENSP00000514621.1:n.1144+2656A>G | |
| ENST00000699821.1:c.1216A>G | ENSP00000514622.1:p.Lys406Glu | |
| ENST00000699822.1:c.*1073A>G | ENSP00000514623.1:n.*1073A>G | |
| ENST00000699823.1:c.1216A>G | ENSP00000514624.1:p.Lys406Glu | |
| ENST00000699824.1:c.*1124A>G | ENSP00000514625.1:n.*1124A>G | |
| ENST00000699825.1:c.1060A>G | ENSP00000514626.1:p.Lys354Glu | |
| ENST00000699826.1:c.*1020A>G | ENSP00000514627.1:n.*1020A>G | |
| ENST00000699827.1:c.1453A>G | ENSP00000514628.1:p.Lys485Glu | |
| ENST00000699828.1:c.*711A>G | ENSP00000514629.1:n.*711A>G | |
| ENST00000699833.1:n.3393A>G | ||
| ENST00000699837.1:c.1216A>G | ENSP00000514635.1:p.Lys406Glu | |
| ENST00000699838.1:c.*1521A>G | ENSP00000514636.1:n.*1521A>G | |
| ENST00000699839.1:c.1807A>G | ENSP00000514637.1:p.Lys603Glu | |
| ENST00000699916.1:c.*878A>G | ENSP00000514684.1:n.*878A>G | |
| ENST00000699917.1:c.*1070A>G | ENSP00000514685.1:n.*1070A>G | |
| ENST00000699918.1:c.*1122A>G | ENSP00000514686.1:n.*1122A>G | |
| ENST00000699919.1:c.*1208A>G | ENSP00000514687.1:n.*1208A>G | |
| ENST00000699920.1:c.*1257A>G | ENSP00000514688.1:n.*1257A>G | |
| ENST00000699928.1:c.989-4153A>G | ENSP00000514693.1:n.989-4153A>G | |
| ENST00000699929.1:c.*922A>G | ENSP00000514694.1:n.*922A>G | |
| ENST00000699930.1:c.1513A>G | ENSP00000514695.1:p.Lys505Glu | |
| ENST00000699931.1:n.3049A>G | ||
| ENST00000699951.1:c.*717A>G | ENSP00000514706.1:n.*717A>G | |
| ENST00000699952.1:c.803+10182A>G | ENSP00000514707.1:n.803+10182A>G | |
| ENST00000699953.1:c.*728A>G | ENSP00000514708.1:n.*728A>G | |
| ENST00000699954.1:c.*922A>G | ENSP00000514709.1:n.*922A>G | |
| ENST00000265849.12:c.1621A>G MANE Select | ENSP00000265849.7:p.Lys541Glu | |
| ENST00000642292.1:c.1216A>G | ENSP00000495524.1:p.Lys406Glu | |
| ENST00000642456.1:c.1216A>G | ENSP00000493814.1:p.Lys406Glu | |
| ENST00000643595.1:c.*1020A>G | ENSP00000494497.1:n.*1020A>G | |
| ENST00000644110.1:c.1303A>G | ENSP00000496392.1:p.Lys435Glu | |
| ENST00000265849.11:c.1621A>G | ENSP00000265849.7:p.Lys541Glu | |
| ENST00000382321.5:c.804-4153A>G | ENSP00000371758.4:n.804-4153A>G | |
| ENST00000406569.7:n.1621A>G | ||
| ENST00000441476.6:c.1303A>G | ENSP00000392843.2:p.Lys435Glu | |
| ENST00000469652.1:n.63-4239A>G | ||
| XM_006715742.2:c.1615A>G | XP_006715805.1:p.Lys539Glu | |
| XM_006715744.2:c.688A>G | XP_006715807.1:p.Lys230Glu | |
| XM_011515427.1:c.1666A>G | XP_011513729.1:p.Lys556Glu | |
| XM_011515428.1:c.1510A>G | XP_011513730.1:p.Lys504Glu | |
| XM_011515429.1:c.1303A>G | XP_011513731.1:p.Lys435Glu | |
| XM_011515430.1:c.1303A>G | XP_011513732.1:p.Lys435Glu | |
| NM_000535.6:c.1621A>G | NP_000526.2:p.Lys541Glu | |
| NM_001322003.1:c.1216A>G | NP_001308932.1:p.Lys406Glu | |
| NM_001322004.1:c.1216A>G | NP_001308933.1:p.Lys406Glu | |
| NM_001322005.1:c.1216A>G | NP_001308934.1:p.Lys406Glu | |
| NM_001322006.1:c.1465A>G | NP_001308935.1:p.Lys489Glu | |
| NM_001322007.1:c.1303A>G | NP_001308936.1:p.Lys435Glu | |
| NM_001322008.1:c.1303A>G | NP_001308937.1:p.Lys435Glu | |
| NM_001322009.1:c.1216A>G | NP_001308938.1:p.Lys406Glu | |
| NM_001322010.1:c.1060A>G | NP_001308939.1:p.Lys354Glu | |
| NM_001322011.1:c.688A>G | NP_001308940.1:p.Lys230Glu | |
| NM_001322012.1:c.688A>G | NP_001308941.1:p.Lys230Glu | |
| NM_001322013.1:c.1048A>G | NP_001308942.1:p.Lys350Glu | |
| NM_001322014.1:c.1621A>G | NP_001308943.1:p.Lys541Glu | |
| NM_001322015.1:c.1312A>G | NP_001308944.1:p.Lys438Glu | |
| NR_136154.1:n.1708A>G | ||
| XM_006715744.4:c.688A>G | XP_006715807.1:p.Lys230Glu | |
| XM_017012342.2:c.688A>G | XP_016867831.1:p.Lys230Glu | |
| XM_024446800.1:c.1060A>G | XP_024302568.1:p.Lys354Glu | |
| NM_000535.7:c.1621A>G MANE Select | NP_000526.2:p.Lys541Glu | |
| NM_001322003.2:c.1216A>G | NP_001308932.1:p.Lys406Glu | |
| NM_001322004.2:c.1216A>G | NP_001308933.1:p.Lys406Glu | |
| NM_001322005.2:c.1216A>G | NP_001308934.1:p.Lys406Glu | |
| NM_001322006.2:c.1465A>G | NP_001308935.1:p.Lys489Glu | |
| NM_001322008.2:c.1303A>G | NP_001308937.1:p.Lys435Glu | |
| NM_001322009.2:c.1216A>G | NP_001308938.1:p.Lys406Glu | |
| NM_001322010.2:c.1060A>G | NP_001308939.1:p.Lys354Glu | |
| NM_001322011.2:c.688A>G | NP_001308940.1:p.Lys230Glu | |
| NM_001322012.2:c.688A>G | NP_001308941.1:p.Lys230Glu | |
| NM_001322013.2:c.1048A>G | NP_001308942.1:p.Lys350Glu | |
| NM_001322014.2:c.1621A>G | NP_001308943.1:p.Lys541Glu | |
| NM_001322015.2:c.1312A>G | NP_001308944.1:p.Lys438Glu | |
| NM_001322007.2:c.1303A>G | NP_001308936.1:p.Lys435Glu |