Linked Data
ClinVar Variation Id:
1256708
ClinVar RCV Id:
RCV001673317
dbSNP Id:
rs11621743
gnomAD v2:
14-74416600-T-C
gnomAD v3:
14-73949897-T-C
gnomAD v4:
14-73949897-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73949897T>C , CM000676.2:g.73949897T>C | GRCh38 |
| NC_000014.8:g.74416600T>C , CM000676.1:g.74416600T>C | GRCh37 |
| NC_000014.7:g.73486353T>C | NCBI36 |
| NG_032805.1:g.4964T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286544.5:c.54+76A>G MANE Select | ENSP00000286544.4:n.54+76A>G | |
| ENST00000651776.1:c.243+76A>G | ENSP00000499021.1:n.243+76A>G | |
| ENST00000286544.3:c.243+76A>G | ENSP00000286544.3:n.243+76A>G | |
| NM_152445.2:c.243+76A>G | NP_689658.2:n.243+76A>G | |
| XM_011536475.1:c.243+76A>G | XP_011534777.1:n.243+76A>G | |
| NM_152445.3:c.54+76A>G MANE Select | NP_689658.3:n.54+76A>G | |
| XM_011536475.2:c.243+76A>G | XP_011534777.1:n.243+76A>G |