Linked Data
ClinVar Variation Id:
14708
dbSNP Id:
rs121913156
ExAC:
19:7120688 C / T
gnomAD v2:
19-7120688-C-T
gnomAD v4:
19-7120677-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7120677C>T , CM000681.2:g.7120677C>T | GRCh38 |
| NC_000019.9:g.7120688C>T , CM000681.1:g.7120688C>T | GRCh37 |
| NC_000019.8:g.7071688C>T | NCBI36 |
| NG_008852.2:g.178324G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.3602G>A MANE Select | ENSP00000303830.4:p.Arg1201Gln | |
| ENST00000302850.9:c.3602G>A | ENSP00000303830.4:p.Arg1201Gln | |
| ENST00000341500.9:c.3566G>A | ENSP00000342838.4:p.Arg1189Gln | |
| ENST00000601099.1:n.513G>A | ||
| NM_000208.2:c.3602G>A | NP_000199.2:p.Arg1201Gln | |
| NM_000208.3:c.3602G>A | NP_000199.2:p.Arg1201Gln | |
| NM_001079817.1:c.3566G>A | NP_001073285.1:p.Arg1189Gln | |
| NM_001079817.2:c.3566G>A | NP_001073285.1:p.Arg1189Gln | |
| XM_011527988.1:c.3677G>A | XP_011526290.1:p.Arg1226Gln | |
| XM_011527989.1:c.3641G>A | XP_011526291.1:p.Arg1214Gln | |
| XM_011527988.2:c.3599G>A | XP_011526290.2:p.Arg1200Gln | |
| XM_011527989.3:c.3563G>A | XP_011526291.2:p.Arg1188Gln | |
| NM_000208.4:c.3602G>A MANE Select | NP_000199.2:p.Arg1201Gln | |
| NM_001079817.3:c.3566G>A | NP_001073285.1:p.Arg1189Gln |