Linked Data
dbSNP Id:
rs756118506
ExAC:
6:74331615 G / A
gnomAD v2:
6-74331615-G-A
gnomAD v4:
6-73621892-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73621892G>A , CM000668.2:g.73621892G>A | GRCh38 |
| NC_000006.11:g.74331615G>A , CM000668.1:g.74331615G>A | GRCh37 |
| NC_000006.10:g.74388336G>A | NCBI36 |
| NG_008272.1:g.37123C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.890C>T MANE Select | ENSP00000348019.5:p.Ala297Val | |
| ENST00000355773.5:c.890C>T | ENSP00000348019.5:p.Ala297Val | |
| NM_012434.4:c.890C>T | NP_036566.1:p.Ala297Val | |
| XM_005248710.2:c.839C>T | XP_005248767.1:p.Ala280Val | |
| XM_005248711.1:c.692C>T | XP_005248768.1:p.Ala231Val | |
| XM_011535750.1:c.890C>T | XP_011534052.1:p.Ala297Val | |
| NM_012434.5:c.890C>T MANE Select | NP_036566.1:p.Ala297Val | |
| NM_001382629.1:c.659C>T | NP_001369558.1:p.Ala220Val | |
| NM_001382630.1:c.890C>T | NP_001369559.1:p.Ala297Val | |
| NM_001382631.1:c.911C>T | NP_001369560.1:p.Ala304Val | |
| NM_001382632.1:c.803C>T | NP_001369561.1:p.Ala268Val | |
| NM_001382633.1:c.890C>T | NP_001369562.1:p.Ala297Val | |
| NM_001382634.1:c.820-6445C>T | NP_001369563.1:n.820-6445C>T | |
| NM_001382635.1:c.887C>T | NP_001369564.1:p.Ala296Val | |
| NM_001382636.1:c.572C>T | NP_001369565.1:p.Ala191Val |