Linked Data
ClinVar Variation Id:
17131
ClinVar RCV Id:
RCV000018669
dbSNP Id:
rs121912943
gnomAD v4:
1-103004633-C-A
PubMed:
PMID:8872475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103004633C>A , CM000663.2:g.103004633C>A | GRCh38 |
| NC_000001.10:g.103470189C>A , CM000663.1:g.103470189C>A | GRCh37 |
| NC_000001.9:g.103242777C>A | NCBI36 |
| NG_008033.1:g.108864G>T | |
| NG_008033.2:g.108864G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370096.9:c.1874G>T MANE Select | ENSP00000359114.3:p.Gly625Val | |
| ENST00000461720.6:c.2027G>T | ENSP00000494909.1:p.Gly676Val | |
| ENST00000644186.1:c.1874G>T | ENSP00000493821.1:p.Gly625Val | |
| ENST00000645458.1:c.1874G>T | ENSP00000494179.1:p.Gly625Val | |
| ENST00000647280.1:c.1874G>T | ENSP00000494583.1:p.Gly625Val | |
| ENST00000353414.8:c.1757G>T | ENSP00000302551.6:p.Gly586Val | |
| ENST00000358392.6:c.1910G>T | ENSP00000351163.2:p.Gly637Val | |
| ENST00000370096.7:c.1874G>T | ENSP00000359114.3:p.Gly625Val | |
| ENST00000461720.5:n.222G>T | ||
| ENST00000512756.5:c.1526G>T | ENSP00000426533.1:p.Gly509Val | |
| ENST00000635193.1:c.1192G>T | ||
| NM_001190709.1:c.1757G>T | NP_001177638.1:p.Gly586Val | |
| NM_001854.3:c.1874G>T | NP_001845.3:p.Gly625Val | |
| NM_080629.2:c.1910G>T | NP_542196.2:p.Gly637Val | |
| NM_080630.3:c.1526G>T | NP_542197.3:p.Gly509Val | |
| XM_011540719.1:c.1874G>T | XP_011539021.1:p.Gly625Val | |
| XM_011540720.1:c.107G>T | XP_011539022.1:p.Gly36Val | |
| XM_011540721.1:c.-555G>T | XP_011539023.1:n.-555G>T | |
| XR_946545.1:n.2272G>T | ||
| NR_134980.1:n.2192G>T | ||
| XM_017000334.1:c.2027G>T | XP_016855823.1:p.Gly676Val | |
| XM_017000335.1:c.2021G>T | XP_016855824.1:p.Gly674Val | |
| XM_017000336.1:c.2027G>T | XP_016855825.1:p.Gly676Val | |
| XM_017000337.1:c.425G>T | XP_016855826.1:p.Gly142Val | |
| NM_001854.4:c.1874G>T MANE Select | NP_001845.3:p.Gly625Val | |
| NM_080630.4:c.1526G>T | NP_542197.3:p.Gly509Val | |
| NR_134980.2:n.2218G>T | ||
| NM_001190709.2:c.1757G>T | NP_001177638.1:p.Gly586Val | |
| NM_080629.3:c.1910G>T | NP_542196.2:p.Gly637Val |