Linked Data
gnomAD v4:
X-116173540-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173540C>A , CM000685.2:g.116173540C>A | GRCh38 |
| NC_000023.10:g.115304793C>A , CM000685.1:g.115304793C>A | GRCh37 |
| NC_000023.9:g.115218821C>A | NCBI36 |
| NG_016326.1:g.7836C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.*168C>A MANE Select | ENSP00000360973.4:n.*168C>A | |
| ENST00000371906.4:c.*168C>A | ENSP00000360973.4:n.*168C>A | |
| NM_000686.4:c.*168C>A | NP_000677.2:n.*168C>A | |
| XM_011537533.1:c.*168C>A | XP_011535835.1:n.*168C>A | |
| NM_000686.5:c.*168C>A MANE Select | NP_000677.2:n.*168C>A | |
| NM_001385624.1:c.*168C>A | NP_001372553.1:n.*168C>A |