Linked Data
ClinVar Variation Id:
656
dbSNP Id:
rs121918141
ExAC:
2:128186178 C / T
gnomAD v2:
2-128186178-C-T
gnomAD v3:
2-127428602-C-T
gnomAD v4:
2-127428602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428602C>T , CM000664.2:g.127428602C>T | GRCh38 |
| NC_000002.11:g.128186178C>T , CM000664.1:g.128186178C>T | GRCh37 |
| NC_000002.10:g.127902648C>T | NCBI36 |
| NG_016323.1:g.15183C>T , LRG_599:g.15183C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.1042C>T MANE Select | ENSP00000234071.4:p.Arg348Ter | |
| ENST00000234071.7:c.1042C>T | ENSP00000234071.3:p.Arg348Ter | |
| ENST00000402125.2:c.366C>T | ||
| ENST00000409048.1:c.1144C>T | ENSP00000386679.1:p.Arg382Ter | |
| NM_000312.3:c.1042C>T , LRG_599t1:c.1042C>T | NP_000303.1:p.Arg348Ter | |
| XM_005263715.3:c.1225C>T | XP_005263772.1:p.Arg409Ter | |
| XM_005263716.3:c.1207C>T | XP_005263773.1:p.Arg403Ter | |
| XM_005263717.3:c.1105C>T | XP_005263774.1:p.Arg369Ter | |
| XR_923313.1:n.1332-338G>A | ||
| XM_005263717.4:c.1105C>T | XP_005263774.1:p.Arg369Ter | |
| XM_017004505.1:c.1285C>T | XP_016859994.1:p.Arg429Ter | |
| XM_024453002.1:c.1387C>T | XP_024308770.1:p.Arg463Ter | |
| XM_024453003.1:c.1327C>T | XP_024308771.1:p.Arg443Ter | |
| XM_024453004.1:c.1225C>T | XP_024308772.1:p.Arg409Ter | |
| XM_024453005.1:c.1207C>T | XP_024308773.1:p.Arg403Ter | |
| XM_024453006.1:c.1144C>T | XP_024308774.1:p.Arg382Ter | |
| XR_001739705.1:n.3607-338G>A | ||
| XR_923313.2:n.4043-338G>A | ||
| NM_000312.4:c.1042C>T MANE Select | NP_000303.1:p.Arg348Ter | |
| NM_001375602.1:c.1225C>T | NP_001362531.1:p.Arg409Ter | |
| NM_001375603.1:c.1207C>T | NP_001362532.1:p.Arg403Ter | |
| NM_001375604.1:c.1105C>T | NP_001362533.1:p.Arg369Ter | |
| NM_001375605.1:c.1144C>T | NP_001362534.1:p.Arg382Ter | |
| NM_001375606.1:c.1210C>T | NP_001362535.1:p.Arg404Ter | |
| NM_001375607.1:c.1228C>T | NP_001362536.1:p.Arg410Ter | |
| NM_001375608.1:c.985C>T | NP_001362537.1:p.Arg329Ter | |
| NM_001375609.1:c.1018C>T | NP_001362538.1:p.Arg340Ter | |
| NM_001375610.1:c.1036C>T | NP_001362539.1:p.Arg346Ter | |
| NM_001375611.1:c.1042C>T | NP_001362540.1:p.Arg348Ter | |
| NM_001375613.1:c.1042C>T | NP_001362542.1:p.Arg348Ter |