Linked Data
gnomAD v4:
2-70831701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831701C>T , CM000664.2:g.70831701C>T | GRCh38 |
| NC_000002.11:g.71058832C>T , CM000664.1:g.71058832C>T | GRCh37 |
| NC_000002.10:g.70912340C>T | NCBI36 |
| NG_033914.1:g.9123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.836G>A MANE Select | ENSP00000386378.3:p.Arg279Lys | |
| ENST00000410009.4:c.836G>A | ENSP00000386378.3:p.Arg279Lys | |
| NM_015717.4:c.836G>A | NP_056532.4:p.Arg279Lys | |
| XM_011532874.1:c.836G>A | XP_011531176.1:p.Arg279Lys | |
| XM_011532875.1:c.836G>A | XP_011531177.1:p.Arg279Lys | |
| XM_011532876.1:c.836G>A | XP_011531178.1:p.Arg279Lys | |
| XM_011532875.2:c.836G>A | XP_011531177.1:p.Arg279Lys | |
| XM_011532876.2:c.836G>A | XP_011531178.1:p.Arg279Lys | |
| NM_015717.5:c.836G>A MANE Select | NP_056532.4:p.Arg279Lys |