Linked Data
ClinVar Variation Id:
2081784
ClinVar RCV Id:
RCV002995612
dbSNP Id:
rs201138169
ExAC:
19:36223347 C / T
gnomAD v2:
19-36223347-C-T
gnomAD v3:
19-35732446-C-T
gnomAD v4:
19-35732446-C-T
COSMIC:
COSM3198532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732446C>T , CM000681.2:g.35732446C>T | GRCh38 |
| NC_000019.9:g.36223347C>T , CM000681.1:g.36223347C>T | GRCh37 |
| NC_000019.8:g.40915187C>T | NCBI36 |
| NG_052906.1:g.19428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.203C>T | ||
| ENST00000673918.2:c.5831C>T | ENSP00000501283.1:p.Ser1944Phe | |
| ENST00000674114.2:c.3438C>T | ENSP00000501039.2:n.3438C>T | |
| ENST00000684977.1:c.1115C>T | ENSP00000509384.1:p.Ser372Phe | |
| ENST00000689544.1:n.1050C>T | ||
| ENST00000691421.1:c.1118C>T | ENSP00000508674.1:p.Ser373Phe | |
| ENST00000691855.1:c.5439C>T | ||
| ENST00000692961.1:c.5897C>T | ENSP00000509289.1:p.Ser1966Phe | |
| ENST00000693677.1:c.704+117C>T | ENSP00000509779.1:n.704+117C>T | |
| ENST00000420124.4:c.5897C>T MANE Select | ENSP00000398837.2:p.Ser1966Phe | |
| ENST00000673918.1:c.5831C>T | ENSP00000501283.1:p.Ser1944Phe | |
| ENST00000674114.1:c.3219C>T | ||
| ENST00000420124.2:c.5897C>T | ENSP00000398837.1:p.Ser1966Phe | |
| NM_014727.2:c.5897C>T | NP_055542.1:p.Ser1966Phe | |
| XM_011527561.1:c.5831C>T | XP_011525863.1:p.Ser1944Phe | |
| XM_011527562.1:c.5897C>T | XP_011525864.1:p.Ser1966Phe | |
| XM_011527563.1:c.5621C>T | XP_011525865.1:p.Ser1874Phe | |
| XM_011527561.2:c.5333C>T | XP_011525863.2:p.Ser1778Phe | |
| XM_011527562.2:c.5897C>T | XP_011525864.1:p.Ser1966Phe | |
| XM_017027544.1:c.5897C>T | XP_016883033.1:p.Ser1966Phe | |
| XM_017027545.1:c.5333C>T | XP_016883034.1:p.Ser1778Phe | |
| XM_017027546.1:c.2861C>T | XP_016883035.1:p.Ser954Phe | |
| NM_014727.3:c.5897C>T MANE Select | NP_055542.1:p.Ser1966Phe |