Linked Data
ClinVar Variation Id:
1164407
ClinVar RCV Id:
RCV001510284
dbSNP Id:
rs1135983
ExAC:
1:161761312 C / T
gnomAD v2:
1-161761312-C-T
gnomAD v3:
1-161791522-C-T
gnomAD v4:
1-161791522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161791522C>T , CM000663.2:g.161791522C>T | GRCh38 |
| NC_000001.10:g.161761312C>T , CM000663.1:g.161761312C>T | GRCh37 |
| NC_000001.9:g.160027936C>T | NCBI36 |
| NG_029773.1:g.30279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367942.4:c.469C>T MANE Select | ENSP00000356919.3:p.Pro157Ser | |
| ENST00000679833.1:c.469C>T | ENSP00000505321.1:p.Pro157Ser | |
| ENST00000679853.1:c.469C>T | ENSP00000506149.1:p.Pro157Ser | |
| ENST00000679886.1:c.83-10530C>T | ENSP00000506559.1:n.83-10530C>T | |
| ENST00000680180.1:n.509C>T | ||
| ENST00000680462.1:c.469C>T | ENSP00000505583.1:p.Pro157Ser | |
| ENST00000680481.1:c.*92C>T | ENSP00000505919.1:n.*92C>T | |
| ENST00000680633.1:c.271C>T | ENSP00000505371.1:p.Pro91Ser | |
| ENST00000680688.1:c.469C>T | ENSP00000504865.1:p.Pro157Ser | |
| ENST00000681001.1:c.*321C>T | ENSP00000506145.1:n.*321C>T | |
| ENST00000681036.1:c.271C>T | ENSP00000505474.1:p.Pro91Ser | |
| ENST00000681169.1:c.469C>T | ENSP00000505455.1:p.Pro157Ser | |
| ENST00000681187.1:n.509C>T | ||
| ENST00000681492.1:c.469C>T | ENSP00000506139.1:p.Pro157Ser | |
| ENST00000681541.1:c.271C>T | ENSP00000506087.1:p.Pro91Ser | |
| ENST00000681557.1:c.*270C>T | ENSP00000506229.1:n.*270C>T | |
| ENST00000681738.1:c.469C>T | ENSP00000505025.1:p.Pro157Ser | |
| ENST00000681779.1:n.519C>T | ||
| ENST00000681801.1:c.469C>T | ENSP00000505998.1:p.Pro157Ser | |
| ENST00000681912.1:c.85C>T | ENSP00000505875.1:p.Pro29Ser | |
| ENST00000367942.3:c.469C>T | ENSP00000356919.3:p.Pro157Ser | |
| NM_007348.3:c.469C>T | NP_031374.2:p.Pro157Ser | |
| XM_006711224.1:c.469C>T | XP_006711287.1:p.Pro157Ser | |
| XM_011509308.1:c.469C>T | XP_011507610.1:p.Pro157Ser | |
| XM_011509309.1:c.469C>T | XP_011507611.1:p.Pro157Ser | |
| XM_011509310.1:c.469C>T | XP_011507612.1:p.Pro157Ser | |
| XM_011509310.2:c.469C>T | XP_011507612.1:p.Pro157Ser | |
| NM_007348.4:c.469C>T MANE Select | NP_031374.2:p.Pro157Ser |