Linked Data
ClinVar Variation Id:
2142288
ClinVar RCV Id:
RCV003058988
dbSNP Id:
rs1485316578
gnomAD v2:
21-47565752-C-T
gnomAD v4:
21-46145838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46145838C>T , CM000683.2:g.46145838C>T | GRCh38 |
| NC_000021.8:g.47565752C>T , CM000683.1:g.47565752C>T | GRCh37 |
| NC_000021.7:g.46390180C>T | NCBI36 |
| NG_016191.1:g.14730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397746.8:c.1078G>A MANE Select | ENSP00000380854.3:p.Ala360Thr | |
| ENST00000291670.9:c.1078G>A | ENSP00000291670.5:p.Ala360Thr | |
| ENST00000397743.1:c.1078G>A | ENSP00000380851.1:p.Ala360Thr | |
| ENST00000397746.7:c.1078G>A | ENSP00000380854.3:p.Ala360Thr | |
| ENST00000397748.5:c.1078G>A | ENSP00000380856.1:p.Ala360Thr | |
| ENST00000469240.1:n.449G>A | ||
| ENST00000480950.1:n.308G>A | ||
| ENST00000498355.6:n.1147G>A | ||
| NM_006657.2:c.1078G>A | NP_006648.1:p.Ala360Thr | |
| NM_206965.1:c.1078G>A | NP_996848.1:p.Ala360Thr | |
| XM_006723961.2:c.1198G>A | XP_006724024.2:p.Ala400Thr | |
| XM_006723962.2:c.1198G>A | XP_006724025.2:p.Ala400Thr | |
| XM_011529434.1:c.1198G>A | XP_011527736.1:p.Ala400Thr | |
| XM_011529435.1:c.1198G>A | XP_011527737.1:p.Ala400Thr | |
| XM_011529436.1:c.1198G>A | XP_011527738.1:p.Ala400Thr | |
| XM_011529437.1:c.1198G>A | XP_011527739.1:p.Ala400Thr | |
| XM_011529438.1:c.1198G>A | XP_011527740.1:p.Ala400Thr | |
| XM_011529439.1:c.685G>A | XP_011527741.1:p.Ala229Thr | |
| XM_011529440.1:c.1198G>A | XP_011527742.1:p.Ala400Thr | |
| XR_937433.1:n.1381G>A | ||
| NM_001320412.1:c.1078G>A | NP_001307341.1:p.Ala360Thr | |
| XM_006723961.4:c.1198G>A | XP_006724024.2:p.Ala400Thr | |
| XM_006723962.4:c.1198G>A | XP_006724025.2:p.Ala400Thr | |
| XM_011529434.3:c.1198G>A | XP_011527736.1:p.Ala400Thr | |
| XM_011529435.3:c.1198G>A | XP_011527737.1:p.Ala400Thr | |
| XM_011529436.3:c.1198G>A | XP_011527738.1:p.Ala400Thr | |
| XM_011529437.3:c.1198G>A | XP_011527739.1:p.Ala400Thr | |
| XM_011529439.2:c.685G>A | XP_011527741.1:p.Ala229Thr | |
| XM_011529440.3:c.1198G>A | XP_011527742.1:p.Ala400Thr | |
| XR_937433.3:n.1415G>A | ||
| NM_206965.2:c.1078G>A MANE Select | NP_996848.1:p.Ala360Thr | |
| NM_001320412.2:c.1078G>A | NP_001307341.1:p.Ala360Thr | |
| NM_006657.3:c.1078G>A | NP_006648.1:p.Ala360Thr |