Linked Data
ClinVar Variation Id:
3087885
ClinVar RCV Id:
RCV004377718
dbSNP Id:
rs747117940
ExAC:
15:40308748 G / T
gnomAD v2:
15-40308748-G-T
gnomAD v3:
15-40016547-G-T
gnomAD v4:
15-40016547-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40016547G>T , CM000677.2:g.40016547G>T | GRCh38 |
| NC_000015.9:g.40308748G>T , CM000677.1:g.40308748G>T | GRCh37 |
| NC_000015.8:g.38096040G>T | NCBI36 |
| NG_034053.1:g.87424G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3805G>T MANE Select | ENSP00000263791.5:p.Asp1269Tyr | |
| ENST00000263791.9:c.3805G>T | ENSP00000263791.5:p.Asp1269Tyr | |
| ENST00000558557.1:n.923-561G>T | ||
| ENST00000558629.5:n.2722G>T | ||
| ENST00000560855.5:c.3137G>T | ||
| NM_001013703.3:c.3805G>T | NP_001013725.2:p.Asp1269Tyr | |
| XM_005254392.1:c.3805G>T | XP_005254449.1:p.Asp1269Tyr | |
| XM_011521599.1:c.3805G>T | XP_011519901.1:p.Asp1269Tyr | |
| XM_011521600.1:c.3760-561G>T | XP_011519902.1:n.3760-561G>T | |
| XM_005254392.3:c.3805G>T | XP_005254449.1:p.Asp1269Tyr | |
| XM_011521599.2:c.3805G>T | XP_011519901.1:p.Asp1269Tyr | |
| XM_011521600.3:c.3760-561G>T | XP_011519902.1:n.3760-561G>T | |
| XM_017022219.2:c.3760-561G>T | XP_016877708.1:n.3760-561G>T | |
| NM_001013703.4:c.3805G>T MANE Select | NP_001013725.2:p.Asp1269Tyr |