Linked Data
ClinVar Variation Id:
134438
dbSNP Id:
rs138003347
ExAC:
13:28578283 G / A
gnomAD v2:
13-28578283-G-A
gnomAD v3:
13-28004146-G-A
gnomAD v4:
13-28004146-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28004146G>A , CM000675.2:g.28004146G>A | GRCh38 |
| NC_000013.10:g.28578283G>A , CM000675.1:g.28578283G>A | GRCh37 |
| NC_000013.9:g.27476283G>A | NCBI36 |
| NG_007066.1:g.101423C>T , LRG_457:g.101423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2888C>T MANE Select | ENSP00000241453.7:p.Ser963Leu | |
| ENST00000241453.11:c.2888C>T | ENSP00000241453.7:p.Ser963Leu | |
| ENST00000380987.2:c.*800C>T | ENSP00000370374.2:n.*800C>T | |
| ENST00000469894.1:n.275C>T | ||
| NM_004119.2:c.2888C>T , LRG_457t1:c.2888C>T | NP_004110.2:p.Ser963Leu | |
| NR_130706.1:n.3102C>T | ||
| XM_011535015.1:c.2831C>T | XP_011533317.1:p.Ser944Leu | |
| XM_011535016.1:c.2363C>T | XP_011533318.1:p.Ser788Leu | |
| XM_011535017.1:c.2363C>T | XP_011533319.1:p.Ser788Leu | |
| XM_011535018.1:c.2363C>T | XP_011533320.1:p.Ser788Leu | |
| XM_011535015.2:c.2831C>T | XP_011533317.1:p.Ser944Leu | |
| XM_011535017.2:c.2363C>T | XP_011533319.1:p.Ser788Leu | |
| XM_011535018.2:c.2363C>T | XP_011533320.1:p.Ser788Leu | |
| XM_017020486.1:c.2672C>T | XP_016875975.1:p.Ser891Leu | |
| XM_017020487.1:c.2363C>T | XP_016875976.1:p.Ser788Leu | |
| XM_017020488.1:c.2009C>T | XP_016875977.1:p.Ser670Leu | |
| XM_017020489.1:c.1991C>T | XP_016875978.1:p.Ser664Leu | |
| NM_004119.3:c.2888C>T MANE Select | NP_004110.2:p.Ser963Leu | |
| NR_130706.2:n.3086C>T |