Linked Data
ClinVar Variation Id:
2391206
ClinVar RCV Id:
RCV002704169
dbSNP Id:
rs775930761
ExAC:
1:98015116 C / T
gnomAD v2:
1-98015116-C-T
gnomAD v3:
1-97549560-C-T
gnomAD v4:
1-97549560-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549560C>T , CM000663.2:g.97549560C>T | GRCh38 |
| NC_000001.10:g.98015116C>T , CM000663.1:g.98015116C>T | GRCh37 |
| NC_000001.9:g.97787704C>T | NCBI36 |
| NG_008807.2:g.376500G>A , LRG_722:g.376500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1524G>A MANE Select | ENSP00000359211.3:p.Gln508= | |
| ENST00000370192.7:c.1524G>A | ENSP00000359211.3:p.Gln508= | |
| NM_000110.3:c.1524G>A , LRG_722t1:c.1524G>A | NP_000101.2:p.Gln508= | |
| XM_005270562.3:c.1524G>A | XP_005270619.2:p.Gln508= | |
| XM_006710397.2:c.1524G>A | XP_006710460.1:p.Gln508= | |
| XM_006710397.3:c.1524G>A | XP_006710460.1:p.Gln508= | |
| XM_017000507.1:c.1413G>A | XP_016855996.1:p.Gln471= | |
| XM_017000508.2:c.1029G>A | XP_016855997.1:p.Gln343= | |
| XM_017000509.2:c.1029G>A | XP_016855998.1:p.Gln343= | |
| XM_017000510.1:c.1029G>A | XP_016855999.1:p.Gln343= | |
| NM_000110.4:c.1524G>A MANE Select | NP_000101.2:p.Gln508= |