Linked Data
dbSNP Id:
rs766434610
ExAC:
15:68628181 A / C
gnomAD v2:
15-68628181-A-C
gnomAD v4:
15-68335843-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335843A>C , CM000677.2:g.68335843A>C | GRCh38 |
| NC_000015.9:g.68628181A>C , CM000677.1:g.68628181A>C | GRCh37 |
| NC_000015.8:g.66415235A>C | NCBI36 |
| NG_046911.1:g.101318T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1279T>G MANE Select | ENSP00000327290.7:p.Tyr427Asp | |
| ENST00000315757.8:c.1279T>G | ENSP00000327290.7:p.Tyr427Asp | |
| ENST00000423218.6:c.1279T>G | ENSP00000403392.2:p.Tyr427Asp | |
| ENST00000566429.1:n.197-29T>G | ||
| ENST00000569346.5:n.258T>G | ||
| NM_001004439.1:c.1279T>G | NP_001004439.1:p.Tyr427Asp | |
| XM_005254228.2:c.973T>G | XP_005254285.1:p.Tyr325Asp | |
| XM_011521363.1:c.1072T>G | XP_011519665.1:p.Tyr358Asp | |
| XM_005254228.3:c.973T>G | XP_005254285.1:p.Tyr325Asp | |
| XM_011521363.2:c.1072T>G | XP_011519665.1:p.Tyr358Asp | |
| NM_001004439.2:c.1279T>G MANE Select | NP_001004439.1:p.Tyr427Asp |