Linked Data
ClinVar Variation Id:
387592
ClinVar RCV Id:
RCV000428069
dbSNP Id:
rs1057522832
gnomAD v4:
X-55015586-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55015586C>G , CM000685.2:g.55015586C>G | GRCh38 |
| NC_000023.10:g.55042019C>G , CM000685.1:g.55042019C>G | GRCh37 |
| NC_000023.9:g.55058744C>G | NCBI36 |
| NG_008983.1:g.20479G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650242.1:c.1160G>C MANE Select | ENSP00000497236.1:p.Gly387Ala | |
| ENST00000330807.9:c.1160G>C | ENSP00000332369.5:p.Gly387Ala | |
| ENST00000335854.8:c.1049G>C | ENSP00000337131.4:p.Gly350Ala | |
| ENST00000396198.7:c.1121G>C | ENSP00000379501.3:p.Gly374Ala | |
| ENST00000498636.1:n.451G>C | ||
| NM_000032.4:c.1160G>C | NP_000023.2:p.Gly387Ala | |
| NM_001037967.3:c.1049G>C | NP_001033056.1:p.Gly350Ala | |
| NM_001037968.3:c.1121G>C | NP_001033057.1:p.Gly374Ala | |
| XM_005261995.2:c.1232G>C | XP_005262052.1:p.Gly411Ala | |
| XM_011530771.1:c.299G>C | XP_011529073.1:p.Gly100Ala | |
| NM_000032.5:c.1160G>C MANE Select | NP_000023.2:p.Gly387Ala | |
| NM_001037967.4:c.1049G>C | NP_001033056.1:p.Gly350Ala | |
| NM_001037968.4:c.1121G>C | NP_001033057.1:p.Gly374Ala |