Linked Data
ClinVar Variation Id:
1232
dbSNP Id:
rs121908282
ExAC:
8:43028883 C / T
gnomAD v2:
8-43028883-C-T
gnomAD v3:
8-43173740-C-T
gnomAD v4:
8-43173740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43173740C>T , CM000670.2:g.43173740C>T | GRCh38 |
| NC_000008.10:g.43028883C>T , CM000670.1:g.43028883C>T | GRCh37 |
| NC_000008.9:g.43148040C>T | NCBI36 |
| NG_009552.1:g.38292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.848C>T MANE Select | ENSP00000368965.4:p.Pro283Leu | |
| ENST00000379644.8:c.848C>T | ENSP00000368965.4:p.Pro283Leu | |
| ENST00000520704.1:c.*297C>T | ENSP00000429109.1:n.*297C>T | |
| ENST00000522082.5:c.89C>T | ENSP00000430151.1:p.Pro30Leu | |
| NM_152419.2:c.848C>T | NP_689632.2:p.Pro283Leu | |
| XM_005273409.1:c.848C>T | XP_005273466.1:p.Pro283Leu | |
| XM_005273410.1:c.848C>T | XP_005273467.1:p.Pro283Leu | |
| XM_005273411.1:c.820+1354C>T | XP_005273468.1:n.820+1354C>T | |
| XM_005273412.2:c.848C>T | XP_005273469.1:p.Pro283Leu | |
| NM_001363227.1:c.848C>T | NP_001350156.1:p.Pro283Leu | |
| NM_001363228.1:c.820+1354C>T | NP_001350157.1:n.820+1354C>T | |
| NM_001363229.1:c.-14+1354C>T | NP_001350158.1:n.-14+1354C>T | |
| XM_005273412.4:c.848C>T | XP_005273469.1:p.Pro283Leu | |
| NM_152419.3:c.848C>T MANE Select | NP_689632.2:p.Pro283Leu | |
| NM_001363227.2:c.848C>T | NP_001350156.1:p.Pro283Leu | |
| NM_001363228.2:c.820+1354C>T | NP_001350157.1:n.820+1354C>T | |
| NM_001363229.2:c.-14+1354C>T | NP_001350158.1:n.-14+1354C>T |