Linked Data
dbSNP Id:
rs756558765
ExAC:
19:7125369 C / T
gnomAD v2:
19-7125369-C-T
gnomAD v4:
19-7125358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125358C>T , CM000681.2:g.7125358C>T | GRCh38 |
| NC_000019.9:g.7125369C>T , CM000681.1:g.7125369C>T | GRCh37 |
| NC_000019.8:g.7076369C>T | NCBI36 |
| NG_008852.2:g.173643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3183G>A MANE Select | ENSP00000303830.4:p.Glu1061= | |
| ENST00000302850.9:c.3183G>A | ENSP00000303830.4:p.Glu1061= | |
| ENST00000341500.9:c.3147G>A | ENSP00000342838.4:p.Glu1049= | |
| ENST00000593970.1:n.29G>A | ||
| NM_000208.2:c.3183G>A | NP_000199.2:p.Glu1061= | |
| NM_000208.3:c.3183G>A | NP_000199.2:p.Glu1061= | |
| NM_001079817.1:c.3147G>A | NP_001073285.1:p.Glu1049= | |
| NM_001079817.2:c.3147G>A | NP_001073285.1:p.Glu1049= | |
| XM_011527988.1:c.3258G>A | XP_011526290.1:p.Glu1086= | |
| XM_011527989.1:c.3222G>A | XP_011526291.1:p.Glu1074= | |
| XM_011527988.2:c.3180G>A | XP_011526290.2:p.Glu1060= | |
| XM_011527989.3:c.3144G>A | XP_011526291.2:p.Glu1048= | |
| NM_000208.4:c.3183G>A MANE Select | NP_000199.2:p.Glu1061= | |
| NM_001079817.3:c.3147G>A | NP_001073285.1:p.Glu1049= |