Linked Data
dbSNP Id:
rs1352847417
gnomAD v2:
4-122776077-T-A
gnomAD v3:
4-121854922-T-A
gnomAD v4:
4-121854922-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121854922T>A , CM000666.2:g.121854922T>A | GRCh38 |
| NC_000004.11:g.122776077T>A , CM000666.1:g.122776077T>A | GRCh37 |
| NC_000004.10:g.122995527T>A | NCBI36 |
| NG_009111.1:g.20566A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.602-102A>T MANE Select | ENSP00000264499.4:n.602-102A>T | |
| ENST00000264499.8:c.602-102A>T | ENSP00000264499.4:n.602-102A>T | |
| ENST00000506636.1:c.602-102A>T | ENSP00000423626.1:n.602-102A>T | |
| NM_018190.3:c.602-102A>T | NP_060660.2:n.602-102A>T | |
| NM_176824.2:c.602-102A>T | NP_789794.1:n.602-102A>T | |
| XM_005263106.2:c.602-99A>T | XP_005263163.1:n.602-99A>T | |
| XM_011532079.1:c.647-99A>T | XP_011530381.1:n.647-99A>T | |
| XM_011532080.1:c.647-102A>T | XP_011530382.1:n.647-102A>T | |
| XM_011532081.1:c.647-99A>T | XP_011530383.1:n.647-99A>T | |
| XM_005263106.4:c.602-99A>T | XP_005263163.1:n.602-99A>T | |
| XM_011532079.3:c.647-99A>T | XP_011530381.1:n.647-99A>T | |
| XM_011532080.3:c.647-102A>T | XP_011530382.1:n.647-102A>T | |
| XM_011532081.3:c.647-99A>T | XP_011530383.1:n.647-99A>T | |
| XM_017008357.2:c.602-102A>T | XP_016863846.1:n.602-102A>T | |
| XM_017008358.2:c.602-99A>T | XP_016863847.1:n.602-99A>T | |
| NM_176824.3:c.602-102A>T MANE Select | NP_789794.1:n.602-102A>T | |
| NM_018190.4:c.602-102A>T | NP_060660.2:n.602-102A>T |