Linked Data
gnomAD v4:
7-129210400-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129210400C>A , CM000669.2:g.129210400C>A | GRCh38 |
| NC_000007.13:g.128850241C>A , CM000669.1:g.128850241C>A | GRCh37 |
| NC_000007.12:g.128637477C>A | NCBI36 |
| NG_023340.1:g.26529C>A | |
| NG_023340.2:g.26529C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.1504C>A MANE Select | ENSP00000249373.3:p.Gln502Lys | |
| ENST00000655644.1:c.*1259C>A | ENSP00000499377.1:n.*1259C>A | |
| ENST00000249373.7:c.1504C>A | ENSP00000249373.3:p.Gln502Lys | |
| ENST00000462420.2:c.475C>A | ||
| NM_005631.4:c.1504C>A | NP_005622.1:p.Gln502Lys | |
| XM_011516522.1:c.1114C>A | XP_011514824.1:p.Gln372Lys | |
| XM_024446891.1:c.1114C>A | XP_024302659.1:p.Gln372Lys | |
| NM_005631.5:c.1504C>A MANE Select | NP_005622.1:p.Gln502Lys |