Linked Data
dbSNP Id:
rs775484830
ExAC:
19:7128883 A / T
gnomAD v2:
19-7128883-A-T
gnomAD v4:
19-7128872-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7128872A>T , CM000681.2:g.7128872A>T | GRCh38 |
| NC_000019.9:g.7128883A>T , CM000681.1:g.7128883A>T | GRCh37 |
| NC_000019.8:g.7079883A>T | NCBI36 |
| NG_008852.2:g.170129T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.2925T>A MANE Select | ENSP00000303830.4:p.Ile975= | |
| ENST00000302850.9:c.2925T>A | ENSP00000303830.4:p.Ile975= | |
| ENST00000341500.9:c.2889T>A | ENSP00000342838.4:p.Ile963= | |
| NM_000208.2:c.2925T>A | NP_000199.2:p.Ile975= | |
| NM_000208.3:c.2925T>A | NP_000199.2:p.Ile975= | |
| NM_001079817.1:c.2889T>A | NP_001073285.1:p.Ile963= | |
| NM_001079817.2:c.2889T>A | NP_001073285.1:p.Ile963= | |
| XM_011527988.1:c.3000T>A | XP_011526290.1:p.Ile1000= | |
| XM_011527989.1:c.2964T>A | XP_011526291.1:p.Ile988= | |
| XM_011527988.2:c.2922T>A | XP_011526290.2:p.Ile974= | |
| XM_011527989.3:c.2886T>A | XP_011526291.2:p.Ile962= | |
| NM_000208.4:c.2925T>A MANE Select | NP_000199.2:p.Ile975= | |
| NM_001079817.3:c.2889T>A | NP_001073285.1:p.Ile963= |