Linked Data
ClinVar Variation Id:
7577
dbSNP Id:
rs104894319
ExAC:
11:73716889 G / A
gnomAD v2:
11-73716889-G-A
gnomAD v3:
11-74005844-G-A
gnomAD v4:
11-74005844-G-A
COSMIC:
COSM3453217
PubMed:
PMID:9769326
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74005844G>A , CM000673.2:g.74005844G>A | GRCh38 |
| NC_000011.9:g.73716889G>A , CM000673.1:g.73716889G>A | GRCh37 |
| NC_000011.8:g.73394537G>A | NCBI36 |
| NG_011515.1:g.8394C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314032.9:c.427C>T MANE Select | ENSP00000323740.4:p.Arg143Ter | |
| ENST00000314032.8:c.427C>T | ENSP00000323740.4:p.Arg143Ter | |
| ENST00000426995.2:c.427C>T | ENSP00000392143.2:p.Arg143Ter | |
| NM_003356.3:c.427C>T | NP_003347.1:p.Arg143Ter | |
| NM_022803.2:c.427C>T | NP_073714.1:p.Arg143Ter | |
| XR_950298.1:n.1768+9810G>A | ||
| NM_003356.4:c.427C>T MANE Select | NP_003347.1:p.Arg143Ter | |
| NM_022803.3:c.427C>T | NP_073714.1:p.Arg143Ter |