Linked Data
ClinVar Variation Id:
10328
dbSNP Id:
rs137852470
gnomAD v4:
X-154860538-T-C
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860538T>C , CM000685.2:g.154860538T>C | GRCh38 |
| NC_000023.10:g.154088813T>C , CM000685.1:g.154088813T>C | GRCh37 |
| NC_000023.9:g.153742007T>C | NCBI36 |
| NG_011403.1:g.167186A>G | |
| NG_011403.2:g.167186A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6794A>G MANE Select | ENSP00000353393.4:p.Gln2265Arg | |
| ENST00000644698.1:c.527A>G | ENSP00000495706.1:p.Gln176Arg | |
| ENST00000330287.10:c.389A>G | ENSP00000327895.6:p.Gln130Arg | |
| ENST00000360256.8:c.6794A>G | ENSP00000353393.4:p.Gln2265Arg | |
| NM_000132.3:c.6794A>G | NP_000123.1:p.Gln2265Arg | |
| NM_019863.2:c.389A>G | NP_063916.1:p.Gln130Arg | |
| XM_011531126.1:c.6689A>G | XP_011529428.1:p.Gln2230Arg | |
| NM_000132.4:c.6794A>G MANE Select | NP_000123.1:p.Gln2265Arg | |
| NM_019863.3:c.389A>G | NP_063916.1:p.Gln130Arg |