Linked Data
ClinVar Variation Id:
1300143
ClinVar RCV Id:
RCV001731126
dbSNP Id:
rs1688706297
gnomAD v4:
2-127428827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428827G>A , CM000664.2:g.127428827G>A | GRCh38 |
| NC_000002.11:g.128186403G>A , CM000664.1:g.128186403G>A | GRCh37 |
| NC_000002.10:g.127902873G>A | NCBI36 |
| NG_016323.1:g.15408G>A , LRG_599:g.15408G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1267G>A MANE Select | ENSP00000234071.4:p.Gly423Ser | |
| ENST00000234071.7:c.1267G>A | ENSP00000234071.3:p.Gly423Ser | |
| ENST00000402125.2:c.591G>A | ||
| ENST00000409048.1:c.1369G>A | ENSP00000386679.1:p.Gly457Ser | |
| NM_000312.3:c.1267G>A , LRG_599t1:c.1267G>A | NP_000303.1:p.Gly423Ser | |
| XM_005263715.3:c.1450G>A | XP_005263772.1:p.Gly484Ser | |
| XM_005263716.3:c.1432G>A | XP_005263773.1:p.Gly478Ser | |
| XM_005263717.3:c.1330G>A | XP_005263774.1:p.Gly444Ser | |
| XR_923313.1:n.1332-563C>T | ||
| XM_005263717.4:c.1330G>A | XP_005263774.1:p.Gly444Ser | |
| XM_017004505.1:c.1510G>A | XP_016859994.1:p.Gly504Ser | |
| XM_024453002.1:c.1612G>A | XP_024308770.1:p.Gly538Ser | |
| XM_024453003.1:c.1552G>A | XP_024308771.1:p.Gly518Ser | |
| XM_024453004.1:c.1450G>A | XP_024308772.1:p.Gly484Ser | |
| XM_024453005.1:c.1432G>A | XP_024308773.1:p.Gly478Ser | |
| XM_024453006.1:c.1369G>A | XP_024308774.1:p.Gly457Ser | |
| XR_001739705.1:n.3607-563C>T | ||
| XR_923313.2:n.4043-563C>T | ||
| NM_000312.4:c.1267G>A MANE Select | NP_000303.1:p.Gly423Ser | |
| NM_001375602.1:c.1450G>A | NP_001362531.1:p.Gly484Ser | |
| NM_001375603.1:c.1432G>A | NP_001362532.1:p.Gly478Ser | |
| NM_001375604.1:c.1330G>A | NP_001362533.1:p.Gly444Ser | |
| NM_001375605.1:c.1369G>A | NP_001362534.1:p.Gly457Ser | |
| NM_001375606.1:c.1435G>A | NP_001362535.1:p.Gly479Ser | |
| NM_001375607.1:c.1453G>A | NP_001362536.1:p.Gly485Ser | |
| NM_001375608.1:c.1210G>A | NP_001362537.1:p.Gly404Ser | |
| NM_001375609.1:c.1243G>A | NP_001362538.1:p.Gly415Ser | |
| NM_001375610.1:c.1261G>A | NP_001362539.1:p.Gly421Ser | |
| NM_001375611.1:c.1267G>A | NP_001362540.1:p.Gly423Ser | |
| NM_001375613.1:c.1267G>A | NP_001362542.1:p.Gly423Ser |