Linked Data
gnomAD v4:
2-70831813-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831813G>T , CM000664.2:g.70831813G>T | GRCh38 |
| NC_000002.11:g.71058944G>T , CM000664.1:g.71058944G>T | GRCh37 |
| NC_000002.10:g.70912452G>T | NCBI36 |
| NG_033914.1:g.9011C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.724C>A MANE Select | ENSP00000386378.3:p.Leu242Met | |
| ENST00000410009.4:c.724C>A | ENSP00000386378.3:p.Leu242Met | |
| NM_015717.4:c.724C>A | NP_056532.4:p.Leu242Met | |
| XM_011532874.1:c.724C>A | XP_011531176.1:p.Leu242Met | |
| XM_011532875.1:c.724C>A | XP_011531177.1:p.Leu242Met | |
| XM_011532876.1:c.724C>A | XP_011531178.1:p.Leu242Met | |
| XM_011532875.2:c.724C>A | XP_011531177.1:p.Leu242Met | |
| XM_011532876.2:c.724C>A | XP_011531178.1:p.Leu242Met | |
| NM_015717.5:c.724C>A MANE Select | NP_056532.4:p.Leu242Met |