Linked Data
ClinVar Variation Id:
309873
ClinVar RCV Id:
RCV000309342
dbSNP Id:
rs17118657
gnomAD v2:
12-56844449-T-C
gnomAD v3:
12-56450665-T-C
gnomAD v4:
12-56450665-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450665T>C , CM000674.2:g.56450665T>C | GRCh38 |
| NC_000012.11:g.56844449T>C , CM000674.1:g.56844449T>C | GRCh37 |
| NC_000012.10:g.55130716T>C | NCBI36 |
| NG_021397.1:g.8987A>G | |
| NG_021397.2:g.23502A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1031A>G | ENSP00000497190.1:n.*1031A>G | |
| ENST00000652304.1:c.*615A>G MANE Select | ENSP00000498622.1:n.*615A>G | |
| ENST00000257979.4:c.*615A>G | ENSP00000257979.4:n.*615A>G | |
| NM_012064.3:c.*615A>G | NP_036196.1:n.*615A>G | |
| XM_011538354.1:c.*615A>G | XP_011536656.1:n.*615A>G | |
| NM_012064.4:c.*615A>G MANE Select | NP_036196.1:n.*615A>G | |
| XM_017019306.1:c.*615A>G | XP_016874795.1:n.*615A>G |