Linked Data
ClinVar Variation Id:
288093
dbSNP Id:
rs201436915
ExAC:
15:91542932 G / A
gnomAD v2:
15-91542932-G-A
gnomAD v3:
15-90999702-G-A
gnomAD v4:
15-90999702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90999702G>A , CM000677.2:g.90999702G>A | GRCh38 |
| NC_000015.9:g.91542932G>A , CM000677.1:g.91542932G>A | GRCh37 |
| NC_000015.8:g.89343936G>A | NCBI36 |
| NG_012162.1:g.27902C>T , LRG_884:g.27902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1749C>T MANE Select | ENSP00000327650.4:p.Ala583= | |
| ENST00000643536.1:c.1749C>T | ENSP00000494429.1:p.Ala583= | |
| ENST00000647331.1:c.1749C>T | ENSP00000493953.1:p.Ala583= | |
| ENST00000333371.7:c.1749C>T | ENSP00000327650.3:p.Ala583= | |
| ENST00000535906.1:c.1668C>T | ENSP00000444053.1:p.Ala556= | |
| ENST00000554660.1:n.684C>T | ||
| ENST00000557470.5:n.148-648C>T | ||
| ENST00000574755.5:c.*1444C>T | ENSP00000460413.1:n.*1444C>T | |
| NM_001289148.1:c.1668C>T | NP_001276077.1:p.Ala556= | |
| NM_001289149.1:c.1476C>T | NP_001276078.1:p.Ala492= | |
| NM_018668.4:c.1749C>T , LRG_884t1:c.1749C>T | NP_061138.3:p.Ala583= | |
| XM_005254884.2:c.1671C>T | XP_005254941.1:p.Ala557= | |
| XM_005254887.1:c.1476C>T | XP_005254944.1:p.Ala492= | |
| XM_011521448.1:c.1476C>T | XP_011519750.1:p.Ala492= | |
| XM_011521449.1:c.1425C>T | XP_011519751.1:p.Ala475= | |
| XM_011521449.2:c.1425C>T | XP_011519751.1:p.Ala475= | |
| XM_017022075.2:c.1404C>T | XP_016877564.1:p.Ala468= | |
| XM_017022076.1:c.1404C>T | XP_016877565.1:p.Ala468= | |
| XR_001751213.2:n.2247C>T | ||
| NM_018668.5:c.1749C>T MANE Select | NP_061138.3:p.Ala583= |