Linked Data
dbSNP Id:
rs748837724
ExAC:
4:100341944 G / A
gnomAD v2:
4-100341944-G-A
gnomAD v4:
4-99420787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420787G>A , CM000666.2:g.99420787G>A | GRCh38 |
| NC_000004.11:g.100341944G>A , CM000666.1:g.100341944G>A | GRCh37 |
| NC_000004.10:g.100560967G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.571C>T MANE Select | ENSP00000414254.2:p.Pro191Ser | |
| ENST00000209665.8:c.607C>T | ENSP00000209665.4:p.Pro203Ser | |
| ENST00000437033.6:c.571C>T | ENSP00000414254.2:p.Pro191Ser | |
| ENST00000476959.5:c.631C>T | ENSP00000420269.1:p.Pro211Ser | |
| ENST00000482593.5:c.400C>T | ENSP00000420613.1:p.Pro134Ser | |
| NM_000673.4:c.607C>T | NP_000664.2:p.Pro203Ser | |
| NM_001166504.1:c.631C>T | NP_001159976.1:p.Pro211Ser | |
| NM_000673.7:c.571C>T MANE Select | NP_000664.3:p.Pro191Ser | |
| NM_001166504.2:c.631C>T | NP_001159976.1:p.Pro211Ser |