Linked Data
ClinVar Variation Id:
3053518
ClinVar RCV Id:
RCV003964075
dbSNP Id:
rs141860068
ExAC:
13:28592706 G / A
gnomAD v2:
13-28592706-G-A
gnomAD v3:
13-28018569-G-A
gnomAD v4:
13-28018569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018569G>A , CM000675.2:g.28018569G>A | GRCh38 |
| NC_000013.10:g.28592706G>A , CM000675.1:g.28592706G>A | GRCh37 |
| NC_000013.9:g.27490706G>A | NCBI36 |
| NG_007066.1:g.87000C>T , LRG_457:g.87000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2439C>T MANE Select | ENSP00000241453.7:p.Ala813= | |
| ENST00000241453.11:c.2439C>T | ENSP00000241453.7:p.Ala813= | |
| ENST00000380987.2:c.*351C>T | ENSP00000370374.2:n.*351C>T | |
| NM_004119.2:c.2439C>T , LRG_457t1:c.2439C>T | NP_004110.2:p.Ala813= | |
| NR_130706.1:n.2653C>T | ||
| XM_011535015.1:c.2382C>T | XP_011533317.1:p.Ala794= | |
| XM_011535016.1:c.1914C>T | XP_011533318.1:p.Ala638= | |
| XM_011535017.1:c.1914C>T | XP_011533319.1:p.Ala638= | |
| XM_011535018.1:c.1914C>T | XP_011533320.1:p.Ala638= | |
| XM_011535015.2:c.2382C>T | XP_011533317.1:p.Ala794= | |
| XM_011535017.2:c.1914C>T | XP_011533319.1:p.Ala638= | |
| XM_011535018.2:c.1914C>T | XP_011533320.1:p.Ala638= | |
| XM_017020486.1:c.2223C>T | XP_016875975.1:p.Ala741= | |
| XM_017020487.1:c.1914C>T | XP_016875976.1:p.Ala638= | |
| XM_017020488.1:c.1560C>T | XP_016875977.1:p.Ala520= | |
| XM_017020489.1:c.1542C>T | XP_016875978.1:p.Ala514= | |
| NM_004119.3:c.2439C>T MANE Select | NP_004110.2:p.Ala813= | |
| NR_130706.2:n.2637C>T |