Linked Data
gnomAD v4:
1-172664218-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172664218C>A , CM000663.2:g.172664218C>A | GRCh38 |
| NC_000001.10:g.172633358C>A , CM000663.1:g.172633358C>A | GRCh37 |
| NC_000001.9:g.170899981C>A | NCBI36 |
| NG_007269.1:g.10174C>A , LRG_58:g.10174C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.395-116C>A MANE Select | ENSP00000356694.2:n.395-116C>A | |
| ENST00000340030.4:c.349-116C>A | ENSP00000344739.3:n.349-116C>A | |
| ENST00000367721.2:c.395-116C>A | ENSP00000356694.2:n.395-116C>A | |
| NM_000639.2:c.395-116C>A | NP_000630.1:n.395-116C>A | |
| NM_001302746.1:c.349-116C>A | NP_001289675.1:n.349-116C>A | |
| NM_000639.3:c.395-116C>A MANE Select | NP_000630.1:n.395-116C>A | |
| NM_001302746.2:c.349-116C>A | NP_001289675.1:n.349-116C>A |