Linked Data
dbSNP Id:
rs776628963
gnomAD v2:
19-7125307-G-A
gnomAD v3:
19-7125296-G-A
gnomAD v4:
19-7125296-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125296G>A , CM000681.2:g.7125296G>A | GRCh38 |
| NC_000019.9:g.7125307G>A , CM000681.1:g.7125307G>A | GRCh37 |
| NC_000019.8:g.7076307G>A | NCBI36 |
| NG_008852.2:g.173705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3245C>T MANE Select | ENSP00000303830.4:p.Thr1082Ile | |
| ENST00000302850.9:c.3245C>T | ENSP00000303830.4:p.Thr1082Ile | |
| ENST00000341500.9:c.3209C>T | ENSP00000342838.4:p.Thr1070Ile | |
| ENST00000593970.1:n.91C>T | ||
| NM_000208.2:c.3245C>T | NP_000199.2:p.Thr1082Ile | |
| NM_000208.3:c.3245C>T | NP_000199.2:p.Thr1082Ile | |
| NM_001079817.1:c.3209C>T | NP_001073285.1:p.Thr1070Ile | |
| NM_001079817.2:c.3209C>T | NP_001073285.1:p.Thr1070Ile | |
| XM_011527988.1:c.3320C>T | XP_011526290.1:p.Thr1107Ile | |
| XM_011527989.1:c.3284C>T | XP_011526291.1:p.Thr1095Ile | |
| XM_011527988.2:c.3242C>T | XP_011526290.2:p.Thr1081Ile | |
| XM_011527989.3:c.3206C>T | XP_011526291.2:p.Thr1069Ile | |
| NM_000208.4:c.3245C>T MANE Select | NP_000199.2:p.Thr1082Ile | |
| NM_001079817.3:c.3209C>T | NP_001073285.1:p.Thr1070Ile |