Linked Data
ClinVar Variation Id:
2997436
ClinVar RCV Id:
RCV003851555
dbSNP Id:
rs773141326
ExAC:
2:233405144 C / T
gnomAD v2:
2-233405144-C-T
gnomAD v4:
2-232540434-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232540434C>T , CM000664.2:g.232540434C>T | GRCh38 |
| NC_000002.11:g.233405144C>T , CM000664.1:g.233405144C>T | GRCh37 |
| NC_000002.10:g.233113388C>T | NCBI36 |
| NG_012954.1:g.5708C>T | |
| NG_012954.2:g.5743C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.240+9C>T MANE Select | ENSP00000498757.1:n.240+9C>T | |
| ENST00000389492.3:c.240+9C>T | ENSP00000374143.3:n.240+9C>T | |
| ENST00000389494.7:c.240+9C>T | ENSP00000374145.3:n.240+9C>T | |
| ENST00000485094.1:n.261+9C>T | ||
| NM_005199.4:c.240+9C>T | NP_005190.4:n.240+9C>T | |
| NM_005199.5:c.240+9C>T MANE Select | NP_005190.4:n.240+9C>T |