Linked Data
ClinVar Variation Id:
4972
dbSNP Id:
rs137852991
ExAC:
2:44100948 C / T
gnomAD v2:
2-44100948-C-T
gnomAD v3:
2-43873809-C-T
gnomAD v4:
2-43873809-C-T
COSMIC:
COSM1021063
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43873809C>T , CM000664.2:g.43873809C>T | GRCh38 |
| NC_000002.11:g.44100948C>T , CM000664.1:g.44100948C>T | GRCh37 |
| NC_000002.10:g.43954452C>T | NCBI36 |
| NG_008884.1:g.39846C>T | |
| NG_008884.2:g.46868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1234C>T MANE Select | ENSP00000272286.2:p.Arg412Ter | |
| ENST00000644611.1:c.1246C>T | ENSP00000495423.1:p.Arg416Ter | |
| ENST00000272286.2:c.1234C>T | ENSP00000272286.2:p.Arg412Ter | |
| NM_022437.2:c.1234C>T | NP_071882.1:p.Arg412Ter | |
| XM_005264483.2:c.1231C>T | XP_005264540.1:p.Arg411Ter | |
| XM_011533029.1:c.1246C>T | XP_011531331.1:p.Arg416Ter | |
| XM_011533030.1:c.1243C>T | XP_011531332.1:p.Arg415Ter | |
| XM_011533031.1:c.1018C>T | XP_011531333.1:p.Arg340Ter | |
| XR_939707.1:n.1736C>T | ||
| NM_001357321.1:c.1231C>T | NP_001344250.1:p.Arg411Ter | |
| XM_011533029.2:c.1246C>T | XP_011531331.1:p.Arg416Ter | |
| XM_011533030.2:c.1243C>T | XP_011531332.1:p.Arg415Ter | |
| XR_001738891.1:n.1750C>T | ||
| XR_939707.2:n.1750C>T | ||
| NM_022437.3:c.1234C>T MANE Select | NP_071882.1:p.Arg412Ter | |
| NM_001357321.2:c.1231C>T | NP_001344250.1:p.Arg411Ter |