Linked Data
ClinVar Variation Id:
134440
dbSNP Id:
rs144397269
ExAC:
13:28578253 C / T
gnomAD v2:
13-28578253-C-T
gnomAD v3:
13-28004116-C-T
gnomAD v4:
13-28004116-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28004116C>T , CM000675.2:g.28004116C>T | GRCh38 |
| NC_000013.10:g.28578253C>T , CM000675.1:g.28578253C>T | GRCh37 |
| NC_000013.9:g.27476253C>T | NCBI36 |
| NG_007066.1:g.101453G>A , LRG_457:g.101453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2918G>A MANE Select | ENSP00000241453.7:p.Arg973Gln | |
| ENST00000241453.11:c.2918G>A | ENSP00000241453.7:p.Arg973Gln | |
| ENST00000380987.2:c.*830G>A | ENSP00000370374.2:n.*830G>A | |
| ENST00000469894.1:n.305G>A | ||
| NM_004119.2:c.2918G>A , LRG_457t1:c.2918G>A | NP_004110.2:p.Arg973Gln | |
| NR_130706.1:n.3132G>A | ||
| XM_011535015.1:c.2861G>A | XP_011533317.1:p.Arg954Gln | |
| XM_011535016.1:c.2393G>A | XP_011533318.1:p.Arg798Gln | |
| XM_011535017.1:c.2393G>A | XP_011533319.1:p.Arg798Gln | |
| XM_011535018.1:c.2393G>A | XP_011533320.1:p.Arg798Gln | |
| XM_011535015.2:c.2861G>A | XP_011533317.1:p.Arg954Gln | |
| XM_011535017.2:c.2393G>A | XP_011533319.1:p.Arg798Gln | |
| XM_011535018.2:c.2393G>A | XP_011533320.1:p.Arg798Gln | |
| XM_017020486.1:c.2702G>A | XP_016875975.1:p.Arg901Gln | |
| XM_017020487.1:c.2393G>A | XP_016875976.1:p.Arg798Gln | |
| XM_017020488.1:c.2039G>A | XP_016875977.1:p.Arg680Gln | |
| XM_017020489.1:c.2021G>A | XP_016875978.1:p.Arg674Gln | |
| NM_004119.3:c.2918G>A MANE Select | NP_004110.2:p.Arg973Gln | |
| NR_130706.2:n.3116G>A |