Linked Data
dbSNP Id:
rs781458340
ExAC:
12:48238688 G / T
gnomAD v2:
12-48238688-G-T
gnomAD v4:
12-47844905-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47844905G>T , CM000674.2:g.47844905G>T | GRCh38 |
| NC_000012.11:g.48238688G>T , CM000674.1:g.48238688G>T | GRCh37 |
| NC_000012.10:g.46524955G>T | NCBI36 |
| NG_008731.1:g.65127C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229022.9:c.1125C>A | ENSP00000229022.5:p.Gly375= | |
| ENST00000549336.6:c.1125C>A MANE Select | ENSP00000449573.2:p.Gly375= | |
| ENST00000229022.7:c.1125C>A | ENSP00000229022.3:p.Gly375= | |
| ENST00000395324.6:c.1125C>A | ENSP00000378734.2:p.Gly375= | |
| ENST00000547065.1:c.*1127C>A | ENSP00000449074.1:n.*1127C>A | |
| ENST00000549336.5:c.1125C>A | ENSP00000449573.1:p.Gly375= | |
| ENST00000550325.5:c.1275C>A | ENSP00000447173.1:p.Gly425= | |
| NM_000376.2:c.1125C>A | NP_000367.1:p.Gly375= | |
| NM_001017535.1:c.1125C>A | NP_001017535.1:p.Gly375= | |
| NM_001017536.1:c.1275C>A | NP_001017536.1:p.Gly425= | |
| XM_006719587.2:c.1125C>A | XP_006719650.1:p.Gly375= | |
| XM_011538720.1:c.1125C>A | XP_011537022.1:p.Gly375= | |
| NM_001364085.1:c.1125C>A | NP_001351014.1:p.Gly375= | |
| XM_006719587.3:c.1125C>A | XP_006719650.1:p.Gly375= | |
| XM_011538720.2:c.1125C>A | XP_011537022.1:p.Gly375= | |
| XM_024449178.1:c.1194C>A | XP_024304946.1:p.Gly398= | |
| NM_000376.3:c.1125C>A MANE Select | NP_000367.1:p.Gly375= | |
| NM_001017535.2:c.1125C>A | NP_001017535.1:p.Gly375= | |
| NM_001017536.2:c.1275C>A | NP_001017536.1:p.Gly425= | |
| NM_001364085.2:c.1125C>A | NP_001351014.1:p.Gly375= | |
| NM_001374661.1:c.1125C>A | NP_001361590.1:p.Gly375= | |
| NM_001374662.1:c.1125C>A | NP_001361591.1:p.Gly375= |