Linked Data
ClinVar Variation Id:
1134912
ClinVar RCV Id:
RCV001470000
dbSNP Id:
rs1247052207
gnomAD v2:
19-7591321-C-T
gnomAD v4:
19-7526435-C-T
COSMIC:
COSM5887048
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526435C>T , CM000681.2:g.7526435C>T | GRCh38 |
| NC_000019.9:g.7591321C>T , CM000681.1:g.7591321C>T | GRCh37 |
| NC_000019.8:g.7497321C>T | NCBI36 |
| NG_015806.1:g.8826C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.238-4C>T MANE Select | ENSP00000264079.5:n.238-4C>T | |
| ENST00000264079.10:c.238-4C>T | ENSP00000264079.5:n.238-4C>T | |
| ENST00000394321.9:n.318-4C>T | ||
| ENST00000596008.1:n.196C>T | ||
| ENST00000598406.1:n.55C>T | ||
| ENST00000601003.1:c.238-4C>T | ENSP00000469074.1:n.238-4C>T | |
| NM_020533.2:c.238-4C>T | NP_065394.1:n.238-4C>T | |
| NM_020533.3:c.238-4C>T MANE Select | NP_065394.1:n.238-4C>T |