Linked Data
gnomAD v4:
1-94030953-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030953C>A , CM000663.2:g.94030953C>A | GRCh38 |
| NC_000001.10:g.94496509C>A , CM000663.1:g.94496509C>A | GRCh37 |
| NC_000001.9:g.94269097C>A | NCBI36 |
| NG_009073.1:g.95197G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.4253+43G>T MANE Select | ENSP00000359245.3:n.4253+43G>T | |
| ENST00000370225.3:c.4253+43G>T | ENSP00000359245.3:n.4253+43G>T | |
| ENST00000536513.5:c.629+43G>T | ENSP00000439707.2:n.629+43G>T | |
| NM_000350.2:c.4253+43G>T | NP_000341.2:n.4253+43G>T | |
| NM_000350.3:c.4253+43G>T MANE Select | NP_000341.2:n.4253+43G>T |