Linked Data
ClinVar Variation Id:
317423
dbSNP Id:
rs149121639
ExAC:
15:91548307 A / G
gnomAD v2:
15-91548307-A-G
gnomAD v3:
15-91005077-A-G
gnomAD v4:
15-91005077-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91005077A>G , CM000677.2:g.91005077A>G | GRCh38 |
| NC_000015.9:g.91548307A>G , CM000677.1:g.91548307A>G | GRCh37 |
| NC_000015.8:g.89349311A>G | NCBI36 |
| NG_012162.1:g.22527T>C , LRG_884:g.22527T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1148T>C MANE Select | ENSP00000327650.4:p.Ile383Thr | |
| ENST00000643536.1:c.1148T>C | ENSP00000494429.1:p.Ile383Thr | |
| ENST00000647331.1:c.1148T>C | ENSP00000493953.1:p.Ile383Thr | |
| ENST00000333371.7:c.1148T>C | ENSP00000327650.3:p.Ile383Thr | |
| ENST00000535906.1:c.1067T>C | ENSP00000444053.1:p.Ile356Thr | |
| ENST00000574755.5:c.*843T>C | ENSP00000460413.1:n.*843T>C | |
| NM_001289148.1:c.1067T>C | NP_001276077.1:p.Ile356Thr | |
| NM_001289149.1:c.875T>C | NP_001276078.1:p.Ile292Thr | |
| NM_018668.4:c.1148T>C , LRG_884t1:c.1148T>C | NP_061138.3:p.Ile383Thr | |
| XM_005254884.2:c.1070T>C | XP_005254941.1:p.Ile357Thr | |
| XM_005254887.1:c.875T>C | XP_005254944.1:p.Ile292Thr | |
| XM_011521448.1:c.875T>C | XP_011519750.1:p.Ile292Thr | |
| XM_011521449.1:c.824T>C | XP_011519751.1:p.Ile275Thr | |
| XM_011521449.2:c.824T>C | XP_011519751.1:p.Ile275Thr | |
| XM_017022075.2:c.803T>C | XP_016877564.1:p.Ile268Thr | |
| XM_017022076.1:c.803T>C | XP_016877565.1:p.Ile268Thr | |
| XR_001751213.2:n.1646T>C | ||
| NM_018668.5:c.1148T>C MANE Select | NP_061138.3:p.Ile383Thr |