Linked Data
ClinVar Variation Id:
2980159
ClinVar RCV Id:
RCV003837333
dbSNP Id:
rs1204535656
gnomAD v2:
19-6713400-G-A
gnomAD v3:
19-6713389-G-A
gnomAD v4:
19-6713389-G-A
COSMIC:
COSN4893082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713389G>A , CM000681.2:g.6713389G>A | GRCh38 |
| NC_000019.9:g.6713400G>A , CM000681.1:g.6713400G>A | GRCh37 |
| NC_000019.8:g.6664400G>A | NCBI36 |
| NG_009557.1:g.12263C>T , LRG_27:g.12263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.753+18C>T | ENSP00000512083.1:n.753+18C>T | |
| ENST00000695692.1:n.200+18C>T | ||
| ENST00000245907.11:c.876+18C>T MANE Select | ENSP00000245907.4:n.876+18C>T | |
| ENST00000245907.10:c.876+18C>T | ENSP00000245907.4:n.876+18C>T | |
| ENST00000595577.1:n.380+18C>T | ||
| ENST00000597442.5:n.126+18C>T | ||
| NM_000064.3:c.876+18C>T | NP_000055.2:n.876+18C>T | |
| NM_000064.4:c.876+18C>T MANE Select | NP_000055.2:n.876+18C>T |