Linked Data
ClinVar Variation Id:
375309
ClinVar RCV Id:
RCV000416368
dbSNP Id:
rs1057519340
PubMed:
PMID:27839872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16904267A>G , CM000681.2:g.16904267A>G | GRCh38 |
| NC_000019.9:g.17015077A>G , CM000681.1:g.17015077A>G | GRCh37 |
| NC_000019.8:g.16876077A>G | NCBI36 |
| NG_054892.1:g.127552T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651564.2:c.4210T>C | ENSP00000498697.2:p.Ser1404Pro | |
| ENST00000682780.1:c.387T>C | ||
| ENST00000443236.7:c.4210T>C MANE Select | ENSP00000402505.3:p.Ser1404Pro | |
| ENST00000651564.1:c.4351T>C | ENSP00000498697.1:p.Ser1451Pro | |
| ENST00000388925.8:c.*2066T>C | ENSP00000373577.4:n.*2066T>C | |
| ENST00000443236.5:c.4351T>C | ENSP00000402505.2:p.Ser1451Pro | |
| NM_015692.2:c.4351T>C | NP_056507.2:p.Ser1451Pro | |
| XM_011527917.1:c.4315T>C | XP_011526219.1:p.Ser1439Pro | |
| XM_011527918.1:c.4351T>C | XP_011526220.1:p.Ser1451Pro | |
| XM_011527919.1:c.4351T>C | XP_011526221.1:p.Ser1451Pro | |
| XM_011527920.1:c.4351T>C | XP_011526222.1:p.Ser1451Pro | |
| XM_011527921.1:c.4351T>C | XP_011526223.1:p.Ser1451Pro | |
| XM_011527922.1:c.4351T>C | XP_011526224.1:p.Ser1451Pro | |
| XM_011527923.1:c.4351T>C | XP_011526225.1:p.Ser1451Pro | |
| XM_011527924.1:c.4351T>C | XP_011526226.1:p.Ser1451Pro | |
| XM_011527925.1:c.2122T>C | XP_011526227.1:p.Ser708Pro | |
| NM_015692.4:c.4210T>C | NP_056507.3:p.Ser1404Pro | |
| XM_011527920.2:c.4351T>C | XP_011526222.1:p.Ser1451Pro | |
| XM_011527921.3:c.4351T>C | XP_011526223.1:p.Ser1451Pro | |
| XM_011527924.2:c.4351T>C | XP_011526226.1:p.Ser1451Pro | |
| XM_017026594.1:c.4351T>C | XP_016882083.1:p.Ser1451Pro | |
| NM_015692.5:c.4210T>C MANE Select | NP_056507.3:p.Ser1404Pro |