Linked Data
dbSNP Id:
rs10924245
gnomAD v2:
1-245733608-G-T
gnomAD v3:
1-245570306-G-T
gnomAD v4:
1-245570306-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.245570306G>T , CM000663.2:g.245570306G>T | GRCh38 |
| NC_000001.10:g.245733608G>T , CM000663.1:g.245733608G>T | GRCh37 |
| NC_000001.9:g.243800231G>T | NCBI36 |
| NG_053061.1:g.420322G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407071.7:c.1350+29356G>T MANE Select | ENSP00000385545.2:n.1350+29356G>T | |
| ENST00000366518.4:c.207+29356G>T | ENSP00000355475.4:n.207+29356G>T | |
| ENST00000407071.6:c.1350+29356G>T | ENSP00000385545.2:n.1350+29356G>T | |
| NM_018012.3:c.1350+29356G>T | NP_060482.2:n.1350+29356G>T | |
| XM_011544214.1:c.912+29356G>T | XP_011542516.1:n.912+29356G>T | |
| XM_011544215.1:c.750+29356G>T | XP_011542517.1:n.750+29356G>T | |
| XM_011544216.1:c.750+29356G>T | XP_011542518.1:n.750+29356G>T | |
| XM_011544217.1:c.750+29356G>T | XP_011542519.1:n.750+29356G>T | |
| XM_011544218.1:c.207+29356G>T | XP_011542520.1:n.207+29356G>T | |
| NM_018012.4:c.1350+29356G>T MANE Select | NP_060482.2:n.1350+29356G>T |