Linked Data
dbSNP Id:
rs1369891725
gnomAD v4:
1-204159437-C-T
MyVariant Identifiers:
chr1:g.204128565C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204159437C>T , CM000663.2:g.204159437C>T | GRCh38 |
| NC_000001.10:g.204128565C>T , CM000663.1:g.204128565C>T | GRCh37 |
| NC_000001.9:g.202395188C>T | NCBI36 |
| NG_012122.1:g.11901G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272190.9:c.651G>A MANE Select | ENSP00000272190.8:p.Gly217= | |
| ENST00000638118.1:c.537G>A | ENSP00000490307.1:p.Gly179= | |
| ENST00000272190.8:c.651G>A | ENSP00000272190.8:p.Gly217= | |
| NM_000537.3:c.651G>A | NP_000528.1:p.Gly217= | |
| NM_000537.4:c.651G>A MANE Select | NP_000528.1:p.Gly217= |