Linked Data
dbSNP Id:
rs7807274
gnomAD v2:
7-131021099-G-A
gnomAD v3:
7-131336340-G-A
gnomAD v4:
7-131336340-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131336340G>A , CM000669.2:g.131336340G>A | GRCh38 |
| NC_000007.13:g.131021099G>A , CM000669.1:g.131021099G>A | GRCh37 |
| NC_000007.12:g.130671639G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352689.11:c.98+8343G>A MANE Select | ENSP00000323527.6:n.98+8343G>A | |
| ENST00000352689.10:c.98+8343G>A | ENSP00000323527.6:n.98+8343G>A | |
| ENST00000416992.6:c.-178-39084G>A | ENSP00000387920.1:n.-178-39084G>A | |
| ENST00000421797.6:c.-178-39084G>A | ENSP00000398094.2:n.-178-39084G>A | |
| ENST00000429546.5:c.-178-39084G>A | ENSP00000399954.1:n.-178-39084G>A | |
| ENST00000446815.5:c.-109+8343G>A | ENSP00000412815.1:n.-109+8343G>A | |
| ENST00000458153.5:c.98+8343G>A | ENSP00000407705.1:n.98+8343G>A | |
| ENST00000494286.5:n.142+8343G>A | ||
| ENST00000494785.5:n.115+8343G>A | ||
| NM_001145354.1:c.30-39084G>A | NP_001138826.1:n.30-39084G>A | |
| NM_013255.4:c.98+8343G>A | NP_037387.2:n.98+8343G>A | |
| XM_006715993.1:c.98+8343G>A | XP_006716056.1:n.98+8343G>A | |
| XM_011516224.1:c.98+8343G>A | XP_011514526.1:n.98+8343G>A | |
| NM_001321316.1:c.-527+8343G>A | NP_001308245.1:n.-527+8343G>A | |
| XM_006715993.3:c.98+8343G>A | XP_006716056.1:n.98+8343G>A | |
| XM_011516224.3:c.98+8343G>A | XP_011514526.1:n.98+8343G>A | |
| XM_024446766.1:c.-216+8343G>A | XP_024302534.1:n.-216+8343G>A | |
| XM_024446767.1:c.-178-39084G>A | XP_024302535.1:n.-178-39084G>A | |
| NM_013255.5:c.98+8343G>A MANE Select | NP_037387.2:n.98+8343G>A | |
| NM_001145354.2:c.30-39084G>A | NP_001138826.1:n.30-39084G>A | |
| NM_001321316.2:c.-527+8343G>A | NP_001308245.1:n.-527+8343G>A |