Linked Data
ClinVar Variation Id:
374076
dbSNP Id:
rs202057289
ExAC:
2:169985570 G / A
gnomAD v2:
2-169985570-G-A
gnomAD v3:
2-169129060-G-A
gnomAD v4:
2-169129060-G-A
COSMIC:
COSM32383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169129060G>A , CM000664.2:g.169129060G>A | GRCh38 |
| NC_000002.11:g.169985570G>A , CM000664.1:g.169985570G>A | GRCh37 |
| NC_000002.10:g.169693816G>A | NCBI36 |
| NG_012634.1:g.238553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.13753C>T MANE Select | ENSP00000496870.1:p.Arg4585Ter | |
| ENST00000649153.1:c.4562C>T | ||
| ENST00000650252.1:c.2744C>T | ENSP00000496887.1:n.2744C>T | |
| ENST00000263816.7:c.13753C>T | ENSP00000263816.3:p.Arg4585Ter | |
| NM_004525.2:c.13753C>T | NP_004516.2:p.Arg4585Ter | |
| XM_011511183.1:c.13624C>T | XP_011509485.1:p.Arg4542Ter | |
| XM_011511184.1:c.11464C>T | XP_011509486.1:p.Arg3822Ter | |
| NM_004525.3:c.13753C>T MANE Select | NP_004516.2:p.Arg4585Ter | |
| XM_011511183.3:c.13624C>T | XP_011509485.1:p.Arg4542Ter | |
| XM_011511184.2:c.11464C>T | XP_011509486.1:p.Arg3822Ter |