Linked Data
ClinVar Variation Id:
365870
ClinVar RCV Id:
RCV000281848
dbSNP Id:
rs191248562
gnomAD v2:
9-139323380-A-G
gnomAD v3:
9-136428928-A-G
gnomAD v4:
9-136428928-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136428928A>G , CM000671.2:g.136428928A>G | GRCh38 |
| NC_000009.11:g.139323380A>G , CM000671.1:g.139323380A>G | GRCh37 |
| NC_000009.10:g.138443201A>G | NCBI36 |
| NG_016126.1:g.15877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.*747T>C MANE Select | ENSP00000360777.3:n.*747T>C | |
| ENST00000676019.1:c.*747T>C | ENSP00000501984.1:n.*747T>C | |
| ENST00000371712.3:c.*747T>C | ENSP00000360777.3:n.*747T>C | |
| NM_019892.4:c.*747T>C | NP_063945.2:n.*747T>C | |
| XM_005266094.2:c.*747T>C | XP_005266151.1:n.*747T>C | |
| NM_001318502.1:c.*747T>C | NP_001305431.1:n.*747T>C | |
| NM_019892.5:c.*747T>C | NP_063945.2:n.*747T>C | |
| XM_017014926.1:c.*826T>C | XP_016870415.1:n.*826T>C | |
| NM_019892.6:c.*747T>C MANE Select | NP_063945.2:n.*747T>C | |
| NM_001318502.2:c.*747T>C | NP_001305431.1:n.*747T>C |