Linked Data
ClinVar Variation Id:
1977906
ClinVar RCV Id:
RCV002774921
dbSNP Id:
rs553548797
gnomAD v2:
8-61777881-G-A
gnomAD v3:
8-60865322-G-A
gnomAD v4:
8-60865322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865322G>A , CM000670.2:g.60865322G>A | GRCh38 |
| NC_000008.10:g.61777881G>A , CM000670.1:g.61777881G>A | GRCh37 |
| NC_000008.9:g.61940435G>A | NCBI36 |
| NG_007009.1:g.191543G>A , LRG_176:g.191543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1559G>A | ||
| ENST00000695852.1:n.490G>A | ||
| ENST00000695853.1:c.*1442G>A | ENSP00000512218.1:n.*1442G>A | |
| ENST00000423902.7:c.8383G>A MANE Select | ENSP00000392028.1:p.Val2795Met | |
| ENST00000423902.6:c.8383G>A | ENSP00000392028.1:p.Val2795Met | |
| ENST00000524602.5:c.2236G>A | ENSP00000437061.1:p.Val746Met | |
| ENST00000528280.1:n.429G>A | ||
| NM_001316690.1:c.2236G>A | NP_001303619.1:p.Val746Met | |
| NM_017780.3:c.8383G>A | NP_060250.2:p.Val2795Met | |
| XM_011517553.1:c.8473G>A | XP_011515855.1:p.Val2825Met | |
| XM_011517554.1:c.8473G>A | XP_011515856.1:p.Val2825Met | |
| XM_011517555.1:c.8470G>A | XP_011515857.1:p.Val2824Met | |
| XM_011517556.1:c.8251G>A | XP_011515858.1:p.Val2751Met | |
| XM_011517557.1:c.6460G>A | XP_011515859.1:p.Val2154Met | |
| XM_011517558.1:c.6010G>A | XP_011515860.1:p.Val2004Met | |
| XM_011517559.1:c.5218G>A | XP_011515861.1:p.Val1740Met | |
| XM_011517553.2:c.8473G>A | XP_011515855.1:p.Val2825Met | |
| XM_011517554.3:c.8473G>A | XP_011515856.1:p.Val2825Met | |
| XM_011517555.2:c.8470G>A | XP_011515857.1:p.Val2824Met | |
| XM_017013612.1:c.8473G>A | XP_016869101.1:p.Val2825Met | |
| XM_017013613.1:c.8380G>A | XP_016869102.1:p.Val2794Met | |
| NM_017780.4:c.8383G>A MANE Select | NP_060250.2:p.Val2795Met |