Linked Data
ClinVar Variation Id:
1581831
dbSNP Id:
rs138866428
ExAC:
1:211093223 G / A
gnomAD v2:
1-211093223-G-A
gnomAD v3:
1-210919881-G-A
gnomAD v4:
1-210919881-G-A
COSMIC:
COSM4027848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210919881G>A , CM000663.2:g.210919881G>A | GRCh38 |
| NC_000001.10:g.211093223G>A , CM000663.1:g.211093223G>A | GRCh37 |
| NC_000001.9:g.209159846G>A | NCBI36 |
| NG_029777.1:g.219235C>T | |
| NG_029777.2:g.219235C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271751.10:c.1221C>T MANE Select | ENSP00000271751.4:p.Asp407= | |
| ENST00000367007.5:c.1140C>T | ENSP00000355974.5:p.Asp380= | |
| ENST00000638357.1:c.554C>T | ||
| ENST00000638498.1:c.1221C>T | ENSP00000490983.1:p.Asp407= | |
| ENST00000638960.1:c.1140C>T | ENSP00000492302.1:p.Asp380= | |
| ENST00000638983.1:c.952-58687C>T | ENSP00000492641.1:n.952-58687C>T | |
| ENST00000639385.1:n.589C>T | ||
| ENST00000639602.1:c.1011C>T | ENSP00000492303.1:p.Asp337= | |
| ENST00000639754.1:n.1424C>T | ||
| ENST00000639952.1:c.1140C>T | ENSP00000492697.1:p.Asp380= | |
| ENST00000640044.1:c.311-115715C>T | ENSP00000491434.1:n.311-115715C>T | |
| ENST00000640243.1:c.951+98983C>T | ENSP00000492803.1:n.951+98983C>T | |
| ENST00000640522.1:c.1032+98902C>T | ENSP00000491019.1:n.1032+98902C>T | |
| ENST00000640528.1:c.1140C>T | ENSP00000491725.1:p.Asp380= | |
| ENST00000640566.1:c.311-144337C>T | ENSP00000491302.1:n.311-144337C>T | |
| ENST00000640710.1:c.1140C>T | ENSP00000492513.1:p.Asp380= | |
| ENST00000640890.1:n.1242C>T | ||
| ENST00000271751.8:c.1221C>T | ENSP00000271751.4:p.Asp407= | |
| ENST00000367007.4:c.1140C>T | ENSP00000355974.4:p.Asp380= | |
| NM_002238.3:c.1140C>T | NP_002229.1:p.Asp380= | |
| NM_172362.2:c.1221C>T | NP_758872.1:p.Asp407= | |
| XM_011509514.1:c.45C>T | XP_011507816.1:p.Asp15= | |
| XM_017001246.1:c.45C>T | XP_016856735.1:p.Asp15= | |
| NM_172362.3:c.1221C>T MANE Select | NP_758872.1:p.Asp407= | |
| NM_002238.4:c.1140C>T | NP_002229.1:p.Asp380= |