Linked Data
MyVariant Identifiers:
chr1:g.172634970G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665830G>A , CM000663.2:g.172665830G>A | GRCh38 |
| NC_000001.10:g.172634970G>A , CM000663.1:g.172634970G>A | GRCh37 |
| NC_000001.9:g.170901593G>A | NCBI36 |
| NG_007269.1:g.11786G>A , LRG_58:g.11786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.660G>A MANE Select | ENSP00000356694.2:p.Gln220= | |
| ENST00000340030.4:c.*230G>A | ENSP00000344739.3:n.*230G>A | |
| ENST00000367721.2:c.660G>A | ENSP00000356694.2:p.Gln220= | |
| NM_000639.2:c.660G>A | NP_000630.1:p.Gln220= | |
| NM_001302746.1:c.*230G>A | NP_001289675.1:n.*230G>A | |
| NM_000639.3:c.660G>A MANE Select | NP_000630.1:p.Gln220= | |
| NM_001302746.2:c.*230G>A | NP_001289675.1:n.*230G>A |