Linked Data
ClinVar Variation Id:
1188680
ClinVar RCV Id:
RCV001548554
dbSNP Id:
rs72856668
gnomAD v2:
17-63532746-T-C
gnomAD v3:
17-65536628-T-C
gnomAD v4:
17-65536628-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65536628T>C , CM000679.2:g.65536628T>C | GRCh38 |
| NC_000017.10:g.63532746T>C , CM000679.1:g.63532746T>C | GRCh37 |
| NC_000017.9:g.60963208T>C | NCBI36 |
| NG_012142.1:g.29995A>G , LRG_296:g.29995A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307078.10:c.1908-75A>G MANE Select | ENSP00000302625.5:n.1908-75A>G | |
| ENST00000307078.9:c.1908-75A>G | ENSP00000302625.5:n.1908-75A>G | |
| ENST00000375702.5:c.1713-75A>G | ENSP00000364854.5:n.1713-75A>G | |
| ENST00000578251.1:n.55A>G | ||
| ENST00000611991.1:c.397-7928A>G | ENSP00000481191.1:n.397-7928A>G | |
| ENST00000618960.4:c.1713-75A>G | ENSP00000478916.1:n.1713-75A>G | |
| NM_004655.3:c.1908-75A>G , LRG_296t1:c.1908-75A>G | NP_004646.3:n.1908-75A>G | |
| XM_011525319.1:c.1908-75A>G | XP_011523621.1:n.1908-75A>G | |
| XM_011525320.1:c.1908-75A>G | XP_011523622.1:n.1908-75A>G | |
| XM_011525321.1:c.1908-75A>G | XP_011523623.1:n.1908-75A>G | |
| XM_011525322.1:c.1713-75A>G | XP_011523624.1:n.1713-75A>G | |
| NM_001363813.1:c.1713-75A>G | NP_001350742.1:n.1713-75A>G | |
| NM_004655.4:c.1908-75A>G MANE Select | NP_004646.3:n.1908-75A>G | |
| XM_011525319.2:c.1908-75A>G | XP_011523621.1:n.1908-75A>G | |
| XM_011525321.2:c.1908-75A>G | XP_011523623.1:n.1908-75A>G | |
| XM_017025192.1:c.1908-75A>G | XP_016880681.1:n.1908-75A>G | |
| XM_017025193.1:c.1713-75A>G | XP_016880682.1:n.1713-75A>G |