Linked Data
ClinVar Variation Id:
409861
dbSNP Id:
rs1060502602
gnomAD v3:
17-58732534-T-C
gnomAD v4:
17-58732534-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58732534T>C , CM000679.2:g.58732534T>C | GRCh38 |
| NC_000017.10:g.56809895T>C , CM000679.1:g.56809895T>C | GRCh37 |
| NC_000017.9:g.54164894T>C | NCBI36 |
| NG_023199.1:g.44933T>C , LRG_314:g.44933T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.665T>C | ENSP00000464056.2:p.Phe222Ser | |
| ENST00000697680.1:c.*1980T>C | ENSP00000513392.1:n.*1980T>C | |
| ENST00000697681.1:c.*2177T>C | ENSP00000513393.1:n.*2177T>C | |
| ENST00000697683.1:c.*1952T>C | ENSP00000513395.1:n.*1952T>C | |
| ENST00000697685.1:c.*1713T>C | ENSP00000513396.1:n.*1713T>C | |
| ENST00000697686.1:c.787T>C | ENSP00000513397.1:p.Phe263Leu | |
| ENST00000697689.1:c.*1441-1584T>C | ENSP00000513398.1:n.*1441-1584T>C | |
| ENST00000697690.1:c.905-1584T>C | ENSP00000513399.1:n.905-1584T>C | |
| ENST00000697691.1:c.*988T>C | ENSP00000513400.1:n.*988T>C | |
| ENST00000697692.1:c.*1028T>C | ENSP00000513401.1:n.*1028T>C | |
| ENST00000697694.1:c.665T>C | ENSP00000513402.1:p.Phe222Ser | |
| ENST00000697695.1:n.1623T>C | ||
| ENST00000337432.9:c.1016T>C MANE Select | ENSP00000336701.4:p.Phe339Ser | |
| ENST00000337432.8:c.1016T>C | ENSP00000336701.4:p.Phe339Ser | |
| ENST00000413590.5:c.657T>C | ||
| ENST00000461706.1:n.203T>C | ||
| ENST00000475762.5:c.*1652T>C | ENSP00000432421.1:n.*1652T>C | |
| ENST00000482007.5:c.*444T>C | ENSP00000433332.1:n.*444T>C | |
| ENST00000487525.5:c.*592T>C | ENSP00000431637.1:n.*592T>C | |
| ENST00000578151.1:n.240-1584T>C | ||
| ENST00000581221.5:n.531T>C | ||
| ENST00000583539.5:c.1016T>C | ENSP00000463121.1:p.Phe339Ser | |
| ENST00000584804.1:c.250T>C | ENSP00000463658.1:p.Phe84Leu | |
| NM_058216.2:c.1016T>C | NP_478123.1:p.Phe339Ser | |
| NR_103872.1:n.920T>C | ||
| XM_006722001.2:c.1019T>C | XP_006722064.1:p.Phe340Ser | |
| XM_006722002.2:c.955T>C | XP_006722065.1:p.Phe319Leu | |
| XM_006722004.2:c.668T>C | XP_006722067.1:p.Phe223Ser | |
| XM_006722005.2:c.668T>C | XP_006722068.1:p.Phe223Ser | |
| XM_011525092.1:c.668T>C | XP_011523394.1:p.Phe223Ser | |
| XM_011525093.1:c.668T>C | XP_011523395.1:p.Phe223Ser | |
| XM_011525094.1:c.668T>C | XP_011523396.1:p.Phe223Ser | |
| XR_934513.1:n.1234T>C | ||
| XR_934514.1:n.1237T>C | ||
| XR_934886.1:n.149+5537A>G | ||
| XM_006722001.4:c.1019T>C | XP_006722064.1:p.Phe340Ser | |
| XM_006722002.4:c.955T>C | XP_006722065.1:p.Phe319Leu | |
| XM_006722004.3:c.668T>C | XP_006722067.1:p.Phe223Ser | |
| XM_006722005.3:c.668T>C | XP_006722068.1:p.Phe223Ser | |
| XM_011525092.2:c.668T>C | XP_011523394.1:p.Phe223Ser | |
| XM_011525093.2:c.668T>C | XP_011523395.1:p.Phe223Ser | |
| XM_011525094.2:c.668T>C | XP_011523396.1:p.Phe223Ser | |
| XM_017024914.1:c.665T>C | XP_016880403.1:p.Phe222Ser | |
| XM_017024915.1:c.665T>C | XP_016880404.1:p.Phe222Ser | |
| XM_017024916.1:c.665T>C | XP_016880405.1:p.Phe222Ser | |
| XM_017024917.1:c.665T>C | XP_016880406.1:p.Phe222Ser | |
| XM_017024918.2:c.665T>C | XP_016880407.1:p.Phe222Ser | |
| XM_017024919.1:c.604T>C | XP_016880408.1:p.Phe202Leu | |
| XR_934513.3:n.1665T>C | ||
| XR_934514.3:n.1668T>C | ||
| XR_934886.2:n.149+5537A>G | ||
| NM_058216.3:c.1016T>C MANE Select | NP_478123.1:p.Phe339Ser | |
| NR_103872.2:n.891T>C |