Linked Data
dbSNP Id:
rs756086692
ExAC:
X:18690179 T / C
gnomAD v2:
X-18690179-T-C
gnomAD v3:
X-18672059-T-C
gnomAD v4:
X-18672059-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672059T>C , CM000685.2:g.18672059T>C | GRCh38 |
| NC_000023.10:g.18690179T>C , CM000685.1:g.18690179T>C | GRCh37 |
| NC_000023.9:g.18600100T>C | NCBI36 |
| NG_008659.3:g.10390A>G , LRG_702:g.10390A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.10A>G MANE Select | ENSP00000369320.3:p.Lys4Glu | |
| ENST00000379984.3:c.10A>G | ENSP00000369320.3:p.Lys4Glu | |
| NM_000330.3:c.10A>G , LRG_702t1:c.10A>G | NP_000321.1:p.Lys4Glu | |
| NM_000330.4:c.10A>G MANE Select | NP_000321.1:p.Lys4Glu |