Linked Data
ClinVar Variation Id:
2143534
ClinVar RCV Id:
RCV003062734
dbSNP Id:
rs367900575
ExAC:
1:203186897 G / A
gnomAD v2:
1-203186897-G-A
gnomAD v3:
1-203217769-G-A
gnomAD v4:
1-203217769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203217769G>A , CM000663.2:g.203217769G>A | GRCh38 |
| NC_000001.10:g.203186897G>A , CM000663.1:g.203186897G>A | GRCh37 |
| NC_000001.9:g.201453520G>A | NCBI36 |
| NG_012867.1:g.16964C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367229.6:c.1126C>T MANE Select | ENSP00000356198.1:p.Pro376Ser | |
| ENST00000255427.7:c.1069C>T | ENSP00000255427.3:p.Pro357Ser | |
| ENST00000367229.5:c.1126C>T | ENSP00000356198.1:p.Pro376Ser | |
| ENST00000479483.1:n.253C>T | ||
| ENST00000484834.5:n.5358C>T | ||
| ENST00000491855.5:c.1126C>T | ENSP00000423778.1:p.Pro376Ser | |
| ENST00000503786.1:c.*197C>T | ENSP00000421617.1:n.*197C>T | |
| NM_001256125.1:c.1069C>T | NP_001243054.2:p.Pro357Ser | |
| NM_001270509.1:c.991C>T | NP_001257438.1:p.Pro331Ser | |
| NM_003465.2:c.1126C>T | NP_003456.1:p.Pro376Ser | |
| NR_045784.1:n.1379C>T | ||
| NR_045785.1:n.1222C>T | ||
| XM_011509109.1:c.1171C>T | XP_011507411.1:p.Pro391Ser | |
| XM_011509110.1:c.1171C>T | XP_011507412.1:p.Pro391Ser | |
| NM_003465.3:c.1126C>T MANE Select | NP_003456.1:p.Pro376Ser | |
| NM_001256125.2:c.1069C>T | NP_001243054.2:p.Pro357Ser | |
| NR_045784.2:n.1320C>T | ||
| NR_045785.2:n.1163C>T |