Linked Data
dbSNP Id:
rs752575531
ExAC:
19:7117071 G / A
gnomAD v2:
19-7117071-G-A
gnomAD v3:
19-7117060-G-A
gnomAD v4:
19-7117060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7117060G>A , CM000681.2:g.7117060G>A | GRCh38 |
| NC_000019.9:g.7117071G>A , CM000681.1:g.7117071G>A | GRCh37 |
| NC_000019.8:g.7068071G>A | NCBI36 |
| NG_008852.2:g.181941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.4145C>T MANE Select | ENSP00000303830.4:p.Ser1382Phe | |
| ENST00000302850.9:c.4145C>T | ENSP00000303830.4:p.Ser1382Phe | |
| ENST00000341500.9:c.4109C>T | ENSP00000342838.4:p.Ser1370Phe | |
| NM_000208.2:c.4145C>T | NP_000199.2:p.Ser1382Phe | |
| NM_000208.3:c.4145C>T | NP_000199.2:p.Ser1382Phe | |
| NM_001079817.1:c.4109C>T | NP_001073285.1:p.Ser1370Phe | |
| NM_001079817.2:c.4109C>T | NP_001073285.1:p.Ser1370Phe | |
| XM_011527988.1:c.4220C>T | XP_011526290.1:p.Ser1407Phe | |
| XM_011527989.1:c.4184C>T | XP_011526291.1:p.Ser1395Phe | |
| XM_011527988.2:c.4142C>T | XP_011526290.2:p.Ser1381Phe | |
| XM_011527989.3:c.4106C>T | XP_011526291.2:p.Ser1369Phe | |
| NM_000208.4:c.4145C>T MANE Select | NP_000199.2:p.Ser1382Phe | |
| NM_001079817.3:c.4109C>T | NP_001073285.1:p.Ser1370Phe |