Linked Data
gnomAD v4:
4-3518036-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3518036G>T , CM000666.2:g.3518036G>T | GRCh38 |
| NC_000004.11:g.3519763G>T , CM000666.1:g.3519763G>T | GRCh37 |
| NC_000004.10:g.3489561G>T | NCBI36 |
| NG_033873.1:g.19462C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648517.1:c.749C>A | ENSP00000496947.1:p.Ala250Asp | |
| ENST00000650182.1:c.749C>A MANE Select | ENSP00000497444.1:p.Ala250Asp | |
| ENST00000296325.9:n.712C>A | ||
| ENST00000500728.2:c.749C>A | ENSP00000421922.1:p.Ala250Asp | |
| ENST00000509198.1:n.795C>A | ||
| ENST00000515119.5:c.*526C>A | ENSP00000421648.1:n.*526C>A | |
| NM_002337.3:c.749C>A | NP_002328.1:p.Ala250Asp | |
| NR_110005.1:n.712C>A | ||
| NM_002337.4:c.749C>A MANE Select | NP_002328.1:p.Ala250Asp | |
| XR_002959730.1:n.834C>A | ||
| NR_110005.2:n.712C>A |