Linked Data
ClinVar Variation Id:
511367
ClinVar RCV Id:
RCV002529664
dbSNP Id:
rs775671940
gnomAD v2:
15-38591563-A-G
gnomAD v3:
15-38299362-A-G
gnomAD v4:
15-38299362-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299362A>G , CM000677.2:g.38299362A>G | GRCh38 |
| NC_000015.9:g.38591563A>G , CM000677.1:g.38591563A>G | GRCh37 |
| NC_000015.8:g.36378855A>G | NCBI36 |
| NG_008980.1:g.51512A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.33-11A>G MANE Select | ENSP00000299084.4:n.33-11A>G | |
| ENST00000299084.8:c.33-11A>G | ENSP00000299084.4:n.33-11A>G | |
| ENST00000561205.1:n.371-11A>G | ||
| ENST00000561317.1:c.-31-11A>G | ENSP00000453680.1:n.-31-11A>G | |
| NM_152594.2:c.33-11A>G | NP_689807.1:n.33-11A>G | |
| XM_005254202.2:c.69-11A>G | XP_005254259.1:n.69-11A>G | |
| XM_005254203.3:c.-15-22879A>G | XP_005254260.1:n.-15-22879A>G | |
| XM_011521288.1:c.-31-11A>G | XP_011519590.1:n.-31-11A>G | |
| XM_011521289.1:c.-31-11A>G | XP_011519591.1:n.-31-11A>G | |
| XM_011521290.1:c.-31-11A>G | XP_011519592.1:n.-31-11A>G | |
| XM_005254202.3:c.69-11A>G | XP_005254259.1:n.69-11A>G | |
| XM_011521289.3:c.-31-11A>G | XP_011519591.1:n.-31-11A>G | |
| NM_152594.3:c.33-11A>G MANE Select | NP_689807.1:n.33-11A>G |