Linked Data
gnomAD v4:
X-47572767-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47572767T>C , CM000685.2:g.47572767T>C | GRCh38 |
| NC_000023.10:g.47432166T>C , CM000685.1:g.47432166T>C | GRCh37 |
| NC_000023.9:g.47317110T>C | NCBI36 |
| NG_008437.1:g.52091A>G | |
| NG_016339.1:g.16651T>C | |
| NG_016339.2:g.16651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.*97A>G MANE Select | ENSP00000295987.7:n.*97A>G | |
| ENST00000340666.5:c.*167A>G | ENSP00000343206.4:n.*167A>G | |
| ENST00000640721.1:c.265A>G | ENSP00000492857.1:n.265A>G | |
| ENST00000295987.11:c.*97A>G | ENSP00000295987.7:n.*97A>G | |
| ENST00000340666.4:c.*167A>G | ENSP00000343206.4:n.*167A>G | |
| NM_006950.3:c.*97A>G MANE Select | NP_008881.2:n.*97A>G | |
| NM_133499.2:c.*167A>G | NP_598006.1:n.*167A>G |