Linked Data
ClinVar Variation Id:
260608
ClinVar RCV Id:
RCV000246270
RCV000296818
RCV000349270
RCV000399116
RCV000861085
RCV001271321
RCV001675738
dbSNP Id:
rs138724933
ExAC:
16:53644956 G / A
gnomAD v2:
16-53644956-G-A
gnomAD v3:
16-53611044-G-A
gnomAD v4:
16-53611044-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53611044G>A , CM000678.2:g.53611044G>A | GRCh38 |
| NC_000016.9:g.53644956G>A , CM000678.1:g.53644956G>A | GRCh37 |
| NC_000016.8:g.52202457G>A | NCBI36 |
| NG_008991.2:g.97816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3384C>T | ENSP00000262135.4:p.Tyr1128= | |
| ENST00000565343.2:n.4048C>T | ||
| ENST00000621565.5:c.3486C>T | ENSP00000480698.1:p.Tyr1162= | |
| ENST00000647211.2:c.3624C>T MANE Select | ENSP00000493946.1:p.Tyr1208= | |
| ENST00000680193.1:c.*384C>T | ENSP00000506379.1:n.*384C>T | |
| ENST00000681587.1:n.1396C>T | ||
| ENST00000262135.8:c.3384C>T | ENSP00000262135.4:p.Tyr1128= | |
| ENST00000379925.7:c.3624C>T | ENSP00000369257.3:p.Tyr1208= | |
| ENST00000563746.5:c.3522C>T | ENSP00000457889.1:p.Tyr1174= | |
| ENST00000564374.5:c.3486C>T | ENSP00000456534.1:p.Tyr1162= | |
| ENST00000621565.4:c.3486C>T | ENSP00000480698.1:p.Tyr1162= | |
| NM_001127897.1:c.3384C>T | NP_001121369.1:p.Tyr1128= | |
| NM_001127897.2:c.3384C>T | NP_001121369.1:p.Tyr1128= | |
| NM_001308334.1:c.3486C>T | NP_001295263.1:p.Tyr1162= | |
| NM_015272.2:c.3624C>T | NP_056087.2:p.Tyr1208= | |
| NM_015272.3:c.3624C>T | NP_056087.2:p.Tyr1208= | |
| XM_005255867.1:c.3522C>T | XP_005255924.1:p.Tyr1174= | |
| XM_005255868.1:c.3498C>T | XP_005255925.1:p.Tyr1166= | |
| XM_005255871.2:c.1731C>T | XP_005255928.1:p.Tyr577= | |
| XM_011522968.1:c.3624C>T | XP_011521270.1:p.Tyr1208= | |
| XM_011522969.1:c.3498C>T | XP_011521271.1:p.Tyr1166= | |
| XM_011522974.1:c.1731C>T | XP_011521276.1:p.Tyr577= | |
| XR_933260.1:n.3530C>T | ||
| NM_001127897.3:c.3384C>T | NP_001121369.1:p.Tyr1128= | |
| NM_001308334.2:c.3486C>T | NP_001295263.1:p.Tyr1162= | |
| NM_001330538.1:c.3522C>T | NP_001317467.1:p.Tyr1174= | |
| NM_015272.4:c.3624C>T | NP_056087.2:p.Tyr1208= | |
| XM_005255868.2:c.3498C>T | XP_005255925.1:p.Tyr1166= | |
| XM_017023094.2:c.3636C>T | XP_016878583.1:p.Tyr1212= | |
| XM_017023095.2:c.3396C>T | XP_016878584.1:p.Tyr1132= | |
| XM_017023096.2:c.3498C>T | XP_016878585.1:p.Tyr1166= | |
| XM_017023098.1:c.1869C>T | XP_016878587.1:p.Tyr623= | |
| XM_017023099.1:c.1869C>T | XP_016878588.1:p.Tyr623= | |
| XR_933260.3:n.3541C>T | ||
| NM_015272.5:c.3624C>T MANE Select | NP_056087.2:p.Tyr1208= | |
| NM_001127897.4:c.3384C>T | NP_001121369.1:p.Tyr1128= | |
| NM_001330538.2:c.3522C>T | NP_001317467.1:p.Tyr1174= | |
| NM_001308334.3:c.3486C>T | NP_001295263.1:p.Tyr1162= |