Linked Data
ClinVar Variation Id:
128577
dbSNP Id:
rs59648663
ExAC:
15:40913955 T / A
gnomAD v2:
15-40913955-T-A
gnomAD v3:
15-40621757-T-A
gnomAD v4:
15-40621757-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40621757T>A , CM000677.2:g.40621757T>A | GRCh38 |
| NC_000015.9:g.40913955T>A , CM000677.1:g.40913955T>A | GRCh37 |
| NC_000015.8:g.38701247T>A | NCBI36 |
| NG_033114.1:g.32509T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.1493T>A MANE Select | ENSP00000382576.3:p.Ile498Asn | |
| ENST00000346991.9:c.1571T>A | ENSP00000335463.6:p.Ile524Asn | |
| ENST00000399668.6:c.1493T>A | ENSP00000382576.2:p.Ile498Asn | |
| ENST00000527044.5:c.1493T>A | ENSP00000432654.2:p.Ile498Asn | |
| ENST00000533001.1:n.1638T>A | ||
| ENST00000534204.1:c.116-7567T>A | ENSP00000453857.1:n.116-7567T>A | |
| ENST00000614337.4:n.1809T>A | ||
| NM_144508.4:c.1493T>A | NP_653091.3:p.Ile498Asn | |
| NM_170589.4:c.1571T>A | NP_733468.3:p.Ile524Asn | |
| XM_011521816.1:c.1169T>A | XP_011520118.1:p.Ile390Asn | |
| XM_011521817.1:c.1493T>A | XP_011520119.1:p.Ile498Asn | |
| XM_017022432.1:c.1169T>A | XP_016877921.1:p.Ile390Asn | |
| NM_144508.5:c.1493T>A MANE Select | NP_653091.3:p.Ile498Asn | |
| NM_170589.5:c.1571T>A | NP_733468.3:p.Ile524Asn |