Linked Data
ClinVar Variation Id:
13576
ClinVar RCV Id:
RCV000014544
dbSNP Id:
rs121918029
PubMed:
PMID:8392398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160736976T>C , CM000668.2:g.160736976T>C | GRCh38 |
| NC_000006.11:g.161158008T>C , CM000668.1:g.161158008T>C | GRCh37 |
| NC_000006.10:g.161077998T>C | NCBI36 |
| NG_016200.1:g.39784T>C , LRG_571:g.39784T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297289.9:c.724T>C | ENSP00000516619.1:p.Ser242Pro | |
| ENST00000418964.2:c.1822T>C | ENSP00000389424.2:p.Ser608Pro | |
| ENST00000706906.1:c.*1791T>C | ENSP00000516618.1:n.*1791T>C | |
| ENST00000308192.14:c.1771T>C MANE Select | ENSP00000308938.9:p.Ser591Pro | |
| ENST00000308192.13:c.1771T>C | ENSP00000308938.9:p.Ser591Pro | |
| NM_000301.3:c.1771T>C , LRG_571t1:c.1771T>C | NP_000292.1:p.Ser591Pro | |
| NM_000301.4:c.1771T>C | NP_000292.1:p.Ser591Pro | |
| NM_000301.5:c.1771T>C MANE Select | NP_000292.1:p.Ser591Pro |