Linked Data
dbSNP Id:
rs907094
ExAC:
17:37790371 G / A
gnomAD v2:
17-37790371-G-A
gnomAD v3:
17-39634118-G-A
gnomAD v4:
17-39634118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39634118G>A , CM000679.2:g.39634118G>A | GRCh38 |
| NC_000017.10:g.37790371G>A , CM000679.1:g.37790371G>A | GRCh37 |
| NC_000017.9:g.35043897G>A | NCBI36 |
| NG_030330.1:g.12195G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254079.9:c.445+32G>A MANE Select | ENSP00000254079.4:n.445+32G>A | |
| ENST00000254079.8:c.445+32G>A | ENSP00000254079.4:n.445+32G>A | |
| ENST00000394265.5:c.337+32G>A | ENSP00000377808.1:n.337+32G>A | |
| ENST00000394267.2:c.337+32G>A | ENSP00000377810.2:n.337+32G>A | |
| ENST00000492037.5:n.362+32G>A | ||
| ENST00000579000.5:c.346+32G>A | ENSP00000462841.1:n.346+32G>A | |
| ENST00000580029.1:n.1949+32G>A | ||
| ENST00000580825.5:c.445+32G>A | ENSP00000462137.1:n.445+32G>A | |
| ENST00000583446.5:n.469+32G>A | ||
| NM_001242464.1:c.337+32G>A | NP_001229393.1:n.337+32G>A | |
| NM_032192.3:c.445+32G>A | NP_115568.2:n.445+32G>A | |
| NM_181505.3:c.337+32G>A | NP_852606.1:n.337+32G>A | |
| XM_006722137.2:c.445+32G>A | XP_006722200.1:n.445+32G>A | |
| XM_017025216.2:c.445+32G>A | XP_016880705.1:n.445+32G>A | |
| XM_017025217.2:c.337+32G>A | XP_016880706.1:n.337+32G>A | |
| NM_032192.4:c.445+32G>A MANE Select | NP_115568.2:n.445+32G>A | |
| NM_001242464.2:c.337+32G>A | NP_001229393.1:n.337+32G>A | |
| NM_181505.4:c.337+32G>A | NP_852606.1:n.337+32G>A |