Linked Data
gnomAD v4:
X-47572779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572779G>A , CM000685.2:g.47572779G>A | GRCh38 |
| NC_000023.10:g.47432178G>A , CM000685.1:g.47432178G>A | GRCh37 |
| NC_000023.9:g.47317122G>A | NCBI36 |
| NG_008437.1:g.52079C>T | |
| NG_016339.1:g.16663G>A | |
| NG_016339.2:g.16663G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*85C>T MANE Select | ENSP00000295987.7:n.*85C>T | |
| ENST00000340666.5:c.*155C>T | ENSP00000343206.4:n.*155C>T | |
| ENST00000640721.1:c.253C>T | ENSP00000492857.1:n.253C>T | |
| ENST00000295987.11:c.*85C>T | ENSP00000295987.7:n.*85C>T | |
| ENST00000340666.4:c.*155C>T | ENSP00000343206.4:n.*155C>T | |
| NM_006950.3:c.*85C>T MANE Select | NP_008881.2:n.*85C>T | |
| NM_133499.2:c.*155C>T | NP_598006.1:n.*155C>T |