Linked Data
dbSNP Id:
rs782217392
ExAC:
X:154091435 C / T
gnomAD v2:
X-154091435-C-T
gnomAD v3:
X-154863160-C-T
gnomAD v4:
X-154863160-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863160C>T , CM000685.2:g.154863160C>T | GRCh38 |
| NC_000023.10:g.154091435C>T , CM000685.1:g.154091435C>T | GRCh37 |
| NC_000023.9:g.153744629C>T | NCBI36 |
| NG_011403.1:g.164564G>A | |
| NG_011403.2:g.164564G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6497G>A MANE Select | ENSP00000353393.4:p.Arg2166Gln | |
| ENST00000644698.1:c.230G>A | ENSP00000495706.1:p.Arg77Gln | |
| ENST00000330287.10:c.92G>A | ENSP00000327895.6:p.Arg31Gln | |
| ENST00000360256.8:c.6497G>A | ENSP00000353393.4:p.Arg2166Gln | |
| NM_000132.3:c.6497G>A | NP_000123.1:p.Arg2166Gln | |
| NM_019863.2:c.92G>A | NP_063916.1:p.Arg31Gln | |
| XM_011531126.1:c.6392G>A | XP_011529428.1:p.Arg2131Gln | |
| NM_000132.4:c.6497G>A MANE Select | NP_000123.1:p.Arg2166Gln | |
| NM_019863.3:c.92G>A | NP_063916.1:p.Arg31Gln |