Linked Data
dbSNP Id:
rs764099715
ExAC:
X:54521570 T / C
gnomAD v2:
X-54521570-T-C
gnomAD v4:
X-54495137-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495137T>C , CM000685.2:g.54495137T>C | GRCh38 |
| NC_000023.10:g.54521570T>C , CM000685.1:g.54521570T>C | GRCh37 |
| NC_000023.9:g.54538295T>C | NCBI36 |
| NG_008054.1:g.6030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.296A>G MANE Select | ENSP00000364277.3:p.Gln99Arg | |
| ENST00000375135.3:c.296A>G | ENSP00000364277.3:p.Gln99Arg | |
| NM_004463.2:c.296A>G | NP_004454.2:p.Gln99Arg | |
| NM_004463.3:c.296A>G MANE Select | NP_004454.2:p.Gln99Arg |