Linked Data
gnomAD v4:
2-74145196-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74145196G>T , CM000664.2:g.74145196G>T | GRCh38 |
| NC_000002.11:g.74372323G>T , CM000664.1:g.74372323G>T | GRCh37 |
| NC_000002.10:g.74225831G>T | NCBI36 |
| NG_031910.1:g.7717C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327428.10:c.162C>A MANE Select | ENSP00000331369.5:p.Asp54Glu | |
| ENST00000295326.4:c.162C>A | ENSP00000295326.4:p.Asp54Glu | |
| ENST00000327428.9:c.162C>A | ENSP00000331369.5:p.Asp54Glu | |
| ENST00000469676.1:n.1185C>A | ||
| ENST00000477685.5:n.313C>A | ||
| ENST00000484655.1:n.2717C>A | ||
| NM_001035505.1:c.162C>A | NP_001030582.1:p.Asp54Glu | |
| NM_212552.2:c.162C>A | NP_997717.2:p.Asp54Glu | |
| NM_212552.3:c.162C>A MANE Select | NP_997717.2:p.Asp54Glu | |
| NM_001035505.2:c.162C>A | NP_001030582.1:p.Asp54Glu |