Linked Data
ClinVar Variation Id:
1937989
ClinVar RCV Id:
RCV002662400
dbSNP Id:
rs2043149804
gnomAD v4:
15-48445356-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445356T>C , CM000677.2:g.48445356T>C | GRCh38 |
| NC_000015.9:g.48737553T>C , CM000677.1:g.48737553T>C | GRCh37 |
| NC_000015.8:g.46524845T>C | NCBI36 |
| NG_008805.2:g.205433A>G , LRG_778:g.205433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+20A>G | ENSP00000453958.2:n.5917+20A>G | |
| ENST00000674301.2:c.5917+20A>G | ENSP00000501333.2:n.5917+20A>G | |
| ENST00000684448.1:n.4591+20A>G | ||
| ENST00000316623.10:c.5917+20A>G MANE Select | ENSP00000325527.5:n.5917+20A>G | |
| ENST00000674301.1:c.916+20A>G | ENSP00000501333.1:n.916+20A>G | |
| ENST00000316623.9:c.5917+20A>G | ENSP00000325527.5:n.5917+20A>G | |
| ENST00000537463.6:c.*1680+20A>G | ENSP00000440294.2:n.*1680+20A>G | |
| ENST00000559133.5:c.1224+20A>G | ||
| ENST00000560820.1:n.37+20A>G | ||
| NM_000138.4:c.5917+20A>G , LRG_778t1:c.5917+20A>G | NP_000129.3:n.5917+20A>G | |
| NM_000138.5:c.5917+20A>G MANE Select | NP_000129.3:n.5917+20A>G |