Linked Data
ClinVar Variation Id:
1009680
ClinVar RCV Id:
RCV001307199
dbSNP Id:
rs778063605
ExAC:
2:128186246 C / A
gnomAD v2:
2-128186246-C-A
gnomAD v3:
2-127428670-C-A
gnomAD v4:
2-127428670-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428670C>A , CM000664.2:g.127428670C>A | GRCh38 |
| NC_000002.11:g.128186246C>A , CM000664.1:g.128186246C>A | GRCh37 |
| NC_000002.10:g.127902716C>A | NCBI36 |
| NG_016323.1:g.15251C>A , LRG_599:g.15251C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1110C>A MANE Select | ENSP00000234071.4:p.His370Gln | |
| ENST00000234071.7:c.1110C>A | ENSP00000234071.3:p.His370Gln | |
| ENST00000402125.2:c.434C>A | ||
| ENST00000409048.1:c.1212C>A | ENSP00000386679.1:p.His404Gln | |
| NM_000312.3:c.1110C>A , LRG_599t1:c.1110C>A | NP_000303.1:p.His370Gln | |
| XM_005263715.3:c.1293C>A | XP_005263772.1:p.His431Gln | |
| XM_005263716.3:c.1275C>A | XP_005263773.1:p.His425Gln | |
| XM_005263717.3:c.1173C>A | XP_005263774.1:p.His391Gln | |
| XR_923313.1:n.1332-406G>T | ||
| XM_005263717.4:c.1173C>A | XP_005263774.1:p.His391Gln | |
| XM_017004505.1:c.1353C>A | XP_016859994.1:p.His451Gln | |
| XM_024453002.1:c.1455C>A | XP_024308770.1:p.His485Gln | |
| XM_024453003.1:c.1395C>A | XP_024308771.1:p.His465Gln | |
| XM_024453004.1:c.1293C>A | XP_024308772.1:p.His431Gln | |
| XM_024453005.1:c.1275C>A | XP_024308773.1:p.His425Gln | |
| XM_024453006.1:c.1212C>A | XP_024308774.1:p.His404Gln | |
| XR_001739705.1:n.3607-406G>T | ||
| XR_923313.2:n.4043-406G>T | ||
| NM_000312.4:c.1110C>A MANE Select | NP_000303.1:p.His370Gln | |
| NM_001375602.1:c.1293C>A | NP_001362531.1:p.His431Gln | |
| NM_001375603.1:c.1275C>A | NP_001362532.1:p.His425Gln | |
| NM_001375604.1:c.1173C>A | NP_001362533.1:p.His391Gln | |
| NM_001375605.1:c.1212C>A | NP_001362534.1:p.His404Gln | |
| NM_001375606.1:c.1278C>A | NP_001362535.1:p.His426Gln | |
| NM_001375607.1:c.1296C>A | NP_001362536.1:p.His432Gln | |
| NM_001375608.1:c.1053C>A | NP_001362537.1:p.His351Gln | |
| NM_001375609.1:c.1086C>A | NP_001362538.1:p.His362Gln | |
| NM_001375610.1:c.1104C>A | NP_001362539.1:p.His368Gln | |
| NM_001375611.1:c.1110C>A | NP_001362540.1:p.His370Gln | |
| NM_001375613.1:c.1110C>A | NP_001362542.1:p.His370Gln |