Linked Data
dbSNP Id:
rs769394501
ExAC:
13:28592675 C / T
gnomAD v2:
13-28592675-C-T
gnomAD v3:
13-28018538-C-T
gnomAD v4:
13-28018538-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018538C>T , CM000675.2:g.28018538C>T | GRCh38 |
| NC_000013.10:g.28592675C>T , CM000675.1:g.28592675C>T | GRCh37 |
| NC_000013.9:g.27490675C>T | NCBI36 |
| NG_007066.1:g.87031G>A , LRG_457:g.87031G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2470G>A MANE Select | ENSP00000241453.7:p.Val824Met | |
| ENST00000241453.11:c.2470G>A | ENSP00000241453.7:p.Val824Met | |
| ENST00000380987.2:c.*382G>A | ENSP00000370374.2:n.*382G>A | |
| NM_004119.2:c.2470G>A , LRG_457t1:c.2470G>A | NP_004110.2:p.Val824Met | |
| NR_130706.1:n.2684G>A | ||
| XM_011535015.1:c.2413G>A | XP_011533317.1:p.Val805Met | |
| XM_011535016.1:c.1945G>A | XP_011533318.1:p.Val649Met | |
| XM_011535017.1:c.1945G>A | XP_011533319.1:p.Val649Met | |
| XM_011535018.1:c.1945G>A | XP_011533320.1:p.Val649Met | |
| XM_011535015.2:c.2413G>A | XP_011533317.1:p.Val805Met | |
| XM_011535017.2:c.1945G>A | XP_011533319.1:p.Val649Met | |
| XM_011535018.2:c.1945G>A | XP_011533320.1:p.Val649Met | |
| XM_017020486.1:c.2254G>A | XP_016875975.1:p.Val752Met | |
| XM_017020487.1:c.1945G>A | XP_016875976.1:p.Val649Met | |
| XM_017020488.1:c.1591G>A | XP_016875977.1:p.Val531Met | |
| XM_017020489.1:c.1573G>A | XP_016875978.1:p.Val525Met | |
| NM_004119.3:c.2470G>A MANE Select | NP_004110.2:p.Val824Met | |
| NR_130706.2:n.2668G>A |