Linked Data
ClinVar Variation Id:
14686
ClinVar RCV Id:
RCV000015800
dbSNP Id:
rs387906538
gnomAD v4:
19-7132230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7132230G>A , CM000681.2:g.7132230G>A | GRCh38 |
| NC_000019.9:g.7132241G>A , CM000681.1:g.7132241G>A | GRCh37 |
| NC_000019.8:g.7083241G>A | NCBI36 |
| NG_008852.2:g.166771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.2770C>T MANE Select | ENSP00000303830.4:p.Arg924Ter | |
| ENST00000302850.9:c.2770C>T | ENSP00000303830.4:p.Arg924Ter | |
| ENST00000341500.9:c.2734C>T | ENSP00000342838.4:p.Arg912Ter | |
| NM_000208.2:c.2770C>T | NP_000199.2:p.Arg924Ter | |
| NM_000208.3:c.2770C>T | NP_000199.2:p.Arg924Ter | |
| NM_001079817.1:c.2734C>T | NP_001073285.1:p.Arg912Ter | |
| NM_001079817.2:c.2734C>T | NP_001073285.1:p.Arg912Ter | |
| XM_011527988.1:c.2848C>T | XP_011526290.1:p.Arg950Ter | |
| XM_011527989.1:c.2812C>T | XP_011526291.1:p.Arg938Ter | |
| XM_011527988.2:c.2770C>T | XP_011526290.2:p.Arg924Ter | |
| XM_011527989.3:c.2734C>T | XP_011526291.2:p.Arg912Ter | |
| NM_000208.4:c.2770C>T MANE Select | NP_000199.2:p.Arg924Ter | |
| NM_001079817.3:c.2734C>T | NP_001073285.1:p.Arg912Ter |