Linked Data
ClinVar Variation Id:
1567936
ClinVar RCV Id:
RCV002216679
dbSNP Id:
rs761230008
ExAC:
3:50230850 A / C
gnomAD v2:
3-50230850-A-C
gnomAD v4:
3-50193417-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193417A>C , CM000665.2:g.50193417A>C | GRCh38 |
| NC_000003.11:g.50230850A>C , CM000665.1:g.50230850A>C | GRCh37 |
| NC_000003.10:g.50205854A>C | NCBI36 |
| NG_009831.1:g.6808A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.291+11A>C MANE Select | ENSP00000232461.3:n.291+11A>C | |
| ENST00000232461.7:c.291+11A>C | ENSP00000232461.3:n.291+11A>C | |
| ENST00000433068.5:c.291+11A>C | ENSP00000387555.1:n.291+11A>C | |
| ENST00000440836.1:c.147+11A>C | ENSP00000403537.1:n.147+11A>C | |
| NM_000172.3:c.291+11A>C | NP_000163.2:n.291+11A>C | |
| NM_144499.2:c.291+11A>C | NP_653082.1:n.291+11A>C | |
| XM_011533595.1:c.147+11A>C | XP_011531897.1:n.147+11A>C | |
| XM_011533596.1:c.147+11A>C | XP_011531898.1:n.147+11A>C | |
| XR_940416.1:n.571+11A>C | ||
| NM_000172.4:c.291+11A>C | NP_000163.2:n.291+11A>C | |
| NM_144499.3:c.291+11A>C MANE Select | NP_653082.1:n.291+11A>C |