Linked Data
gnomAD v4:
4-99949717-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949717G>C , CM000666.2:g.99949717G>C | GRCh38 |
| NC_000004.11:g.100870874G>C , CM000666.1:g.100870874G>C | GRCh37 |
| NC_000004.10:g.101089897G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.27C>G MANE Select | ENSP00000296417.5:p.Asp9Glu | |
| ENST00000651623.1:c.27C>G | ENSP00000498935.1:p.Asp9Glu | |
| ENST00000296417.5:c.27C>G | ENSP00000296417.5:p.Asp9Glu | |
| ENST00000511203.1:n.583C>G | ||
| ENST00000511319.5:n.552C>G | ||
| ENST00000511348.1:n.212C>G | ||
| ENST00000527366.1:n.111C>G | ||
| ENST00000529158.5:n.76C>G | ||
| NM_002106.3:c.27C>G | NP_002097.1:p.Asp9Glu | |
| NM_002106.4:c.27C>G MANE Select | NP_002097.1:p.Asp9Glu |