Linked Data
dbSNP Id:
rs758634755
ExAC:
19:7125480 G / T
gnomAD v2:
19-7125480-G-T
gnomAD v4:
19-7125469-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125469G>T , CM000681.2:g.7125469G>T | GRCh38 |
| NC_000019.9:g.7125480G>T , CM000681.1:g.7125480G>T | GRCh37 |
| NC_000019.8:g.7076480G>T | NCBI36 |
| NG_008852.2:g.173532C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3072C>A MANE Select | ENSP00000303830.4:p.Thr1024= | |
| ENST00000302850.9:c.3072C>A | ENSP00000303830.4:p.Thr1024= | |
| ENST00000341500.9:c.3036C>A | ENSP00000342838.4:p.Thr1012= | |
| NM_000208.2:c.3072C>A | NP_000199.2:p.Thr1024= | |
| NM_000208.3:c.3072C>A | NP_000199.2:p.Thr1024= | |
| NM_001079817.1:c.3036C>A | NP_001073285.1:p.Thr1012= | |
| NM_001079817.2:c.3036C>A | NP_001073285.1:p.Thr1012= | |
| XM_011527988.1:c.3147C>A | XP_011526290.1:p.Thr1049= | |
| XM_011527989.1:c.3111C>A | XP_011526291.1:p.Thr1037= | |
| XM_011527988.2:c.3069C>A | XP_011526290.2:p.Thr1023= | |
| XM_011527989.3:c.3033C>A | XP_011526291.2:p.Thr1011= | |
| NM_000208.4:c.3072C>A MANE Select | NP_000199.2:p.Thr1024= | |
| NM_001079817.3:c.3036C>A | NP_001073285.1:p.Thr1012= |