Linked Data
dbSNP Id:
rs770522528
ExAC:
15:68628141 A / G
gnomAD v2:
15-68628141-A-G
gnomAD v4:
15-68335803-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335803A>G , CM000677.2:g.68335803A>G | GRCh38 |
| NC_000015.9:g.68628141A>G , CM000677.1:g.68628141A>G | GRCh37 |
| NC_000015.8:g.66415195A>G | NCBI36 |
| NG_046911.1:g.101358T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1319T>C MANE Select | ENSP00000327290.7:p.Val440Ala | |
| ENST00000315757.8:c.1319T>C | ENSP00000327290.7:p.Val440Ala | |
| ENST00000423218.6:c.1319T>C | ENSP00000403392.2:p.Val440Ala | |
| ENST00000566429.1:n.208T>C | ||
| ENST00000569346.5:n.298T>C | ||
| NM_001004439.1:c.1319T>C | NP_001004439.1:p.Val440Ala | |
| XM_005254228.2:c.1013T>C | XP_005254285.1:p.Val338Ala | |
| XM_011521363.1:c.1112T>C | XP_011519665.1:p.Val371Ala | |
| XM_005254228.3:c.1013T>C | XP_005254285.1:p.Val338Ala | |
| XM_011521363.2:c.1112T>C | XP_011519665.1:p.Val371Ala | |
| NM_001004439.2:c.1319T>C MANE Select | NP_001004439.1:p.Val440Ala |