Linked Data
ClinVar Variation Id:
99829
ClinVar RCV Id:
RCV000086262
dbSNP Id:
rs62637038
gnomAD v4:
X-41474562-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41474562G>T , CM000685.2:g.41474562G>T | GRCh38 |
| NC_000023.10:g.41333815G>T , CM000685.1:g.41333815G>T | GRCh37 |
| NC_000023.9:g.41218759G>T | NCBI36 |
| NG_009112.1:g.32103G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342595.3:c.1094G>T | ENSP00000340328.3:p.Gly365Val | |
| ENST00000378220.3:c.1094G>T MANE Select | ENSP00000367465.2:p.Gly365Val | |
| ENST00000378220.2:c.1109G>T | ENSP00000367465.1:p.Gly370Val | |
| ENST00000342595.2:c.1109G>T | ENSP00000340328.2:p.Gly370Val | |
| ENST00000378220.1:c.1109G>T | ENSP00000367465.1:p.Gly370Val | |
| NM_022567.2:c.1109G>T | NP_072089.1:p.Gly370Val | |
| XM_005272632.2:c.1109G>T | XP_005272689.1:p.Gly370Val | |
| XM_017029709.1:c.1109G>T | XP_016885198.1:p.Gly370Val | |
| NM_001378477.3:c.1094G>T MANE Select | NP_001365406.2:p.Gly365Val | |
| NM_022567.3:c.1094G>T | NP_072089.2:p.Gly365Val |