Linked Data
gnomAD v4:
X-43949950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43949950A>G , CM000685.2:g.43949950A>G | GRCh38 |
| NC_000023.10:g.43809196A>G , CM000685.1:g.43809196A>G | GRCh37 |
| NC_000023.9:g.43694140A>G | NCBI36 |
| NG_009832.1:g.28726T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642620.1:c.251T>C (NDP) MANE Select | ENSP00000495972.1:p.Val84Ala | |
| ENST00000647044.1:c.251T>C (NDP) | ENSP00000495811.1:p.Val84Ala | |
| ENST00000378062.5:c.251T>C (NDP) | ENSP00000367301.5:p.Val84Ala | |
| ENST00000470584.1:n.295T>C (NDP) | ||
| NM_000266.3:c.251T>C (NDP) | NP_000257.1:p.Val84Ala | |
| NR_046631.1:n.219A>G (NDP-AS1) | ||
| NM_000266.4:c.251T>C (NDP) MANE Select | NP_000257.1:p.Val84Ala |