Linked Data
ClinVar Variation Id:
354665
ClinVar RCV Id:
RCV000299579
dbSNP Id:
rs758539915
gnomAD v2:
6-100837112-A-G
gnomAD v3:
6-100389236-A-G
gnomAD v4:
6-100389236-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100389236A>G , CM000668.2:g.100389236A>G | GRCh38 |
| NC_000006.11:g.100837112A>G , CM000668.1:g.100837112A>G | GRCh37 |
| NC_000006.10:g.100943833A>G | NCBI36 |
| NG_008230.1:g.79440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369208.8:c.*1125T>C MANE Select | ENSP00000358210.4:n.*1125T>C | |
| ENST00000262901.4:c.*1125T>C | ENSP00000262901.4:n.*1125T>C | |
| ENST00000369208.7:c.*1125T>C | ENSP00000358210.3:n.*1125T>C | |
| NM_005068.2:c.*1125T>C | NP_005059.2:n.*1125T>C | |
| XM_005267100.2:c.*1125T>C | XP_005267157.1:n.*1125T>C | |
| XM_017011197.1:c.*1125T>C | XP_016866686.1:n.*1125T>C | |
| NM_001374769.1:c.*1125T>C | NP_001361698.1:n.*1125T>C | |
| NM_005068.3:c.*1125T>C MANE Select | NP_005059.2:n.*1125T>C |