Linked Data
ClinVar Variation Id:
14700
ClinVar RCV Id:
RCV000015815
dbSNP Id:
rs121913150
ExAC:
19:7120718 C / T
gnomAD v2:
19-7120718-C-T
gnomAD v3:
19-7120707-C-T
gnomAD v4:
19-7120707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7120707C>T , CM000681.2:g.7120707C>T | GRCh38 |
| NC_000019.9:g.7120718C>T , CM000681.1:g.7120718C>T | GRCh37 |
| NC_000019.8:g.7071718C>T | NCBI36 |
| NG_008852.2:g.178294G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302850.10:c.3572G>A MANE Select | ENSP00000303830.4:p.Arg1191Gln | |
| ENST00000302850.9:c.3572G>A | ENSP00000303830.4:p.Arg1191Gln | |
| ENST00000341500.9:c.3536G>A | ENSP00000342838.4:p.Arg1179Gln | |
| ENST00000601099.1:n.483G>A | ||
| NM_000208.2:c.3572G>A | NP_000199.2:p.Arg1191Gln | |
| NM_000208.3:c.3572G>A | NP_000199.2:p.Arg1191Gln | |
| NM_001079817.1:c.3536G>A | NP_001073285.1:p.Arg1179Gln | |
| NM_001079817.2:c.3536G>A | NP_001073285.1:p.Arg1179Gln | |
| XM_011527988.1:c.3647G>A | XP_011526290.1:p.Arg1216Gln | |
| XM_011527989.1:c.3611G>A | XP_011526291.1:p.Arg1204Gln | |
| XM_011527988.2:c.3569G>A | XP_011526290.2:p.Arg1190Gln | |
| XM_011527989.3:c.3533G>A | XP_011526291.2:p.Arg1178Gln | |
| NM_000208.4:c.3572G>A MANE Select | NP_000199.2:p.Arg1191Gln | |
| NM_001079817.3:c.3536G>A | NP_001073285.1:p.Arg1179Gln |