Linked Data
ClinVar Variation Id:
3120243
ClinVar RCV Id:
RCV004413136
dbSNP Id:
rs369600443
ExAC:
2:170115538 G / A
gnomAD v2:
2-170115538-G-A
gnomAD v3:
2-169259028-G-A
gnomAD v4:
2-169259028-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259028G>A , CM000664.2:g.169259028G>A | GRCh38 |
| NC_000002.11:g.170115538G>A , CM000664.1:g.170115538G>A | GRCh37 |
| NC_000002.10:g.169823784G>A | NCBI36 |
| NG_012634.1:g.108585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2510C>T MANE Select | ENSP00000496870.1:p.Ala837Val | |
| ENST00000263816.7:c.2510C>T | ENSP00000263816.3:p.Ala837Val | |
| ENST00000443831.1:c.2099C>T | ENSP00000409813.1:p.Ala700Val | |
| NM_004525.2:c.2510C>T | NP_004516.2:p.Ala837Val | |
| XM_011511183.1:c.2510C>T | XP_011509485.1:p.Ala837Val | |
| XM_011511184.1:c.221C>T | XP_011509486.1:p.Ala74Val | |
| XM_011511185.1:c.2510C>T | XP_011509487.1:p.Ala837Val | |
| NM_004525.3:c.2510C>T MANE Select | NP_004516.2:p.Ala837Val | |
| XM_011511183.3:c.2510C>T | XP_011509485.1:p.Ala837Val | |
| XM_011511184.2:c.221C>T | XP_011509486.1:p.Ala74Val |