Linked Data
dbSNP Id:
rs72625359
ExAC:
Y:15028176 G / C
gnomAD v2:
Y-15028176-G-C
gnomAD v3:
Y-12916264-G-C
gnomAD v4:
Y-12916264-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12916264G>C , CM000686.2:g.12916264G>C | GRCh38 |
| NC_000024.9:g.15028176G>C , CM000686.1:g.15028176G>C | GRCh37 |
| NC_000024.8:g.13537570G>C | NCBI36 |
| NG_012831.1:g.17158G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336079.8:c.1313G>C MANE Select | ENSP00000336725.3:p.Ser438Thr | |
| ENST00000336079.7:c.1313G>C | ENSP00000336725.3:p.Ser438Thr | |
| ENST00000360160.8:c.1313G>C | ENSP00000353284.4:p.Ser438Thr | |
| ENST00000495478.1:n.428G>C | ||
| NM_001122665.2:c.1313G>C | NP_001116137.1:p.Ser438Thr | |
| NM_001302552.1:c.1304G>C | NP_001289481.1:p.Ser435Thr | |
| NM_004660.4:c.1313G>C | NP_004651.2:p.Ser438Thr | |
| XM_006724878.1:c.1313G>C | XP_006724941.1:p.Ser438Thr | |
| XM_011531471.1:c.1313G>C | XP_011529773.1:p.Ser438Thr | |
| NM_001122665.3:c.1313G>C | NP_001116137.1:p.Ser438Thr | |
| NM_001302552.2:c.1304G>C | NP_001289481.1:p.Ser435Thr | |
| NM_001324195.1:c.1313G>C | NP_001311124.1:p.Ser438Thr | |
| NR_136716.1:n.1782G>C | ||
| NR_136717.1:n.1544G>C | ||
| NR_136718.1:n.1862G>C | ||
| NR_136719.1:n.1652G>C | ||
| NR_136720.1:n.1782G>C | ||
| NR_136721.1:n.1375G>C | ||
| NR_136722.1:n.1459G>C | ||
| NR_136723.1:n.1777G>C | ||
| NR_136724.1:n.1697G>C | ||
| XR_001756014.2:n.1417G>C | ||
| NM_004660.5:c.1313G>C MANE Select | NP_004651.2:p.Ser438Thr | |
| NM_001302552.3:c.1304G>C | NP_001289481.1:p.Ser435Thr | |
| NM_001324195.2:c.1313G>C | NP_001311124.1:p.Ser438Thr | |
| NR_136716.2:n.1700G>C | ||
| NR_136717.2:n.1462G>C | ||
| NR_136718.2:n.1780G>C | ||
| NR_136719.2:n.1570G>C | ||
| NR_136720.2:n.1700G>C | ||
| NR_136721.2:n.1365G>C |