Linked Data
ClinVar Variation Id:
1216773
dbSNP Id:
rs372419698
gnomAD v2:
1-103449737-C-T
gnomAD v3:
1-102984181-C-T
gnomAD v4:
1-102984181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102984181C>T , CM000663.2:g.102984181C>T | GRCh38 |
| NC_000001.10:g.103449737C>T , CM000663.1:g.103449737C>T | GRCh37 |
| NC_000001.9:g.103222325C>T | NCBI36 |
| NG_008033.1:g.129316G>A | |
| NG_008033.2:g.129316G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2513G>A MANE Select | ENSP00000359114.3:p.Gly838Glu | |
| ENST00000353414.8:c.2396G>A | ENSP00000302551.6:p.Gly799Glu | |
| ENST00000358392.6:c.2549G>A | ENSP00000351163.2:p.Gly850Glu | |
| ENST00000370096.7:c.2513G>A | ENSP00000359114.3:p.Gly838Glu | |
| ENST00000512756.5:c.2165G>A | ENSP00000426533.1:p.Gly722Glu | |
| ENST00000635193.1:c.1831G>A | ||
| NM_001190709.1:c.2396G>A | NP_001177638.1:p.Gly799Glu | |
| NM_001854.3:c.2513G>A | NP_001845.3:p.Gly838Glu | |
| NM_080629.2:c.2549G>A | NP_542196.2:p.Gly850Glu | |
| NM_080630.3:c.2165G>A | NP_542197.3:p.Gly722Glu | |
| XM_011540719.1:c.2513G>A | XP_011539021.1:p.Gly838Glu | |
| XM_011540720.1:c.746G>A | XP_011539022.1:p.Gly249Glu | |
| XM_011540721.1:c.85G>A | XP_011539023.1:p.Glu29Lys | |
| XR_946545.1:n.2911G>A | ||
| NR_134980.1:n.2831G>A | ||
| XM_017000334.1:c.2666G>A | XP_016855823.1:p.Gly889Glu | |
| XM_017000335.1:c.2660G>A | XP_016855824.1:p.Gly887Glu | |
| XM_017000336.1:c.2666G>A | XP_016855825.1:p.Gly889Glu | |
| XM_017000337.1:c.1064G>A | XP_016855826.1:p.Gly355Glu | |
| NM_001854.4:c.2513G>A MANE Select | NP_001845.3:p.Gly838Glu | |
| NM_080630.4:c.2165G>A | NP_542197.3:p.Gly722Glu | |
| NR_134980.2:n.2857G>A | ||
| NM_001190709.2:c.2396G>A | NP_001177638.1:p.Gly799Glu | |
| NM_080629.3:c.2549G>A | NP_542196.2:p.Gly850Glu |