Linked Data
dbSNP Id:
rs1803532514
gnomAD v4:
7-155811943-T-C
MyVariant Identifiers:
chr7:g.155604637T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155811943T>C , CM000669.2:g.155811943T>C | GRCh38 |
| NC_000007.13:g.155604637T>C , CM000669.1:g.155604637T>C | GRCh37 |
| NC_000007.12:g.155297398T>C | NCBI36 |
| NG_007504.2:g.5331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.180A>G MANE Select | ENSP00000297261.2:p.Gly60= | |
| ENST00000297261.6:c.180A>G | ENSP00000297261.2:p.Gly60= | |
| NM_000193.2:c.180A>G | NP_000184.1:p.Gly60= | |
| NM_000193.3:c.180A>G | NP_000184.1:p.Gly60= | |
| NM_000193.4:c.180A>G MANE Select | NP_000184.1:p.Gly60= |