Linked Data
dbSNP Id:
rs759964025
ExAC:
Y:6938828 G / A
gnomAD v2:
Y-6938828-G-A
gnomAD v3:
Y-7070787-G-A
gnomAD v4:
Y-7070787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7070787G>A , CM000686.2:g.7070787G>A | GRCh38 |
| NC_000024.9:g.6938828G>A , CM000686.1:g.6938828G>A | GRCh37 |
| NC_000024.8:g.6998828G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383032.6:c.658G>A MANE Select | ENSP00000372499.1:p.Val220Met | |
| ENST00000346432.3:c.658G>A | ENSP00000328879.4:p.Val220Met | |
| ENST00000355162.6:c.658G>A | ENSP00000347289.2:p.Val220Met | |
| ENST00000383032.5:c.658G>A | ENSP00000372499.1:p.Val220Met | |
| NM_033284.1:c.658G>A | NP_150600.1:p.Val220Met | |
| NM_134258.1:c.658G>A | NP_599020.1:p.Val220Met | |
| NM_134259.1:c.658G>A | NP_599021.1:p.Val220Met | |
| XM_005262572.2:c.700G>A | XP_005262629.1:p.Val234Met | |
| XM_005262572.3:c.700G>A | XP_005262629.1:p.Val234Met | |
| XM_017030086.1:c.658G>A | XP_016885575.1:p.Val220Met | |
| XM_017030087.1:c.658G>A | XP_016885576.1:p.Val220Met | |
| XM_024452497.1:c.658G>A | XP_024308265.1:p.Val220Met | |
| NM_033284.2:c.658G>A MANE Select | NP_150600.1:p.Val220Met | |
| NM_134258.2:c.658G>A | NP_599020.1:p.Val220Met | |
| NM_134259.2:c.658G>A | NP_599021.1:p.Val220Met |