Linked Data
ClinVar Variation Id:
427764
dbSNP Id:
rs1114167438
gnomAD v3:
1-21564098-C-T
gnomAD v4:
1-21564098-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21564098C>T , CM000663.2:g.21564098C>T | GRCh38 |
| NC_000001.10:g.21890591C>T , CM000663.1:g.21890591C>T | GRCh37 |
| NC_000001.9:g.21763178C>T | NCBI36 |
| NG_008940.1:g.59734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.530C>T MANE Select | ENSP00000363973.3:p.Ala177Val | |
| ENST00000374832.5:c.530C>T | ENSP00000363965.1:p.Ala177Val | |
| ENST00000374840.7:c.530C>T | ENSP00000363973.3:p.Ala177Val | |
| ENST00000468526.1:n.590C>T | ||
| ENST00000539907.5:c.299C>T | ENSP00000437674.1:p.Ala100Val | |
| ENST00000540617.5:c.365C>T | ENSP00000442672.1:p.Ala122Val | |
| NM_000478.4:c.530C>T | NP_000469.3:p.Ala177Val | |
| NM_001127501.2:c.365C>T | NP_001120973.2:p.Ala122Val | |
| NM_001177520.1:c.299C>T | NP_001170991.1:p.Ala100Val | |
| XM_005245818.1:c.530C>T | XP_005245875.1:p.Ala177Val | |
| XM_005245820.2:c.530C>T | XP_005245877.1:p.Ala177Val | |
| XM_006710546.1:c.530C>T | XP_006710609.1:p.Ala177Val | |
| NM_000478.5:c.530C>T | NP_000469.3:p.Ala177Val | |
| NM_001127501.3:c.365C>T | NP_001120973.2:p.Ala122Val | |
| NM_001177520.2:c.299C>T | NP_001170991.1:p.Ala100Val | |
| XM_006710546.3:c.530C>T | XP_006710609.1:p.Ala177Val | |
| XM_017000903.1:c.374C>T | XP_016856392.1:p.Ala125Val | |
| NM_000478.6:c.530C>T MANE Select | NP_000469.3:p.Ala177Val | |
| NM_001127501.4:c.365C>T | NP_001120973.2:p.Ala122Val | |
| NM_001177520.3:c.299C>T | NP_001170991.1:p.Ala100Val | |
| NM_001369803.2:c.530C>T | NP_001356732.1:p.Ala177Val | |
| NM_001369804.2:c.530C>T | NP_001356733.1:p.Ala177Val | |
| NM_001369805.2:c.530C>T | NP_001356734.1:p.Ala177Val |