Linked Data
dbSNP Id:
rs1658228261
gnomAD v3:
1-204160665-G-A
gnomAD v4:
1-204160665-G-A
COSMIC:
COSM3864176
MyVariant Identifiers:
chr1:g.204129793G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204160665G>A , CM000663.2:g.204160665G>A | GRCh38 |
| NC_000001.10:g.204129793G>A , CM000663.1:g.204129793G>A | GRCh37 |
| NC_000001.9:g.202396416G>A | NCBI36 |
| NG_012122.1:g.10673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.387C>T MANE Select | ENSP00000272190.8:p.Leu129= | |
| ENST00000638118.1:c.273C>T | ENSP00000490307.1:p.Leu91= | |
| ENST00000272190.8:c.387C>T | ENSP00000272190.8:p.Leu129= | |
| NM_000537.3:c.387C>T | NP_000528.1:p.Leu129= | |
| NM_000537.4:c.387C>T MANE Select | NP_000528.1:p.Leu129= |