Linked Data
dbSNP Id:
rs773476618
ExAC:
1:186092090 A / T
gnomAD v2:
1-186092090-A-T
gnomAD v4:
1-186122958-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186122958A>T , CM000663.2:g.186122958A>T | GRCh38 |
| NC_000001.10:g.186092090A>T , CM000663.1:g.186092090A>T | GRCh37 |
| NC_000001.9:g.184358713A>T | NCBI36 |
| NG_011841.1:g.393408A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12237A>T MANE Select | ENSP00000271588.4:p.Pro4079= | |
| ENST00000271588.8:c.12237A>T | ENSP00000271588.4:p.Pro4079= | |
| NM_031935.2:c.12237A>T | NP_114141.2:p.Pro4079= | |
| XM_011510037.1:c.11952A>T | XP_011508339.1:p.Pro3984= | |
| XM_011510038.1:c.12237A>T | XP_011508340.1:p.Pro4079= | |
| XM_011510039.1:c.12237A>T | XP_011508341.1:p.Pro4079= | |
| XM_011510038.3:c.12237A>T | XP_011508340.1:p.Pro4079= | |
| XM_017002437.1:c.10260A>T | XP_016857926.1:p.Pro3420= | |
| NM_031935.3:c.12237A>T MANE Select | NP_114141.2:p.Pro4079= |