Linked Data
dbSNP Id:
rs751466974
ExAC:
7:27135299 G / A
gnomAD v2:
7-27135299-G-A
gnomAD v3:
7-27095680-G-A
gnomAD v4:
7-27095680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095680G>A , CM000669.2:g.27095680G>A | GRCh38 |
| NC_000007.13:g.27135299G>A , CM000669.1:g.27135299G>A | GRCh37 |
| NC_000007.12:g.27101824G>A | NCBI36 |
| NG_011813.1:g.5327C>T | |
| NG_033087.1:g.4587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.233C>T MANE Select | ENSP00000494260.2:p.Ala78Val | |
| ENST00000343060.4:c.233C>T | ENSP00000343246.4:p.Ala78Val | |
| ENST00000355633.5:c.233C>T | ENSP00000347851.5:p.Ala78Val | |
| NM_005522.4:c.233C>T | NP_005513.1:p.Ala78Val | |
| NM_153620.2:c.233C>T | NP_705873.2:p.Ala78Val | |
| NM_005522.5:c.233C>T MANE Select | NP_005513.2:p.Ala78Val | |
| NM_153620.3:c.233C>T | NP_705873.3:p.Ala78Val |