Linked Data
ClinVar Variation Id:
12088
ClinVar RCV Id:
RCV000012869
dbSNP Id:
rs121964936
ExAC:
13:113773145 T / G
gnomAD v2:
13-113773145-T-G
gnomAD v3:
13-113118831-T-G
gnomAD v4:
13-113118831-T-G
PubMed:
PMID:12472587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118831T>G , CM000675.2:g.113118831T>G | GRCh38 |
| NC_000013.10:g.113773145T>G , CM000675.1:g.113773145T>G | GRCh37 |
| NC_000013.9:g.112821146T>G | NCBI36 |
| NG_009258.1:g.1033T>G , LRG_548:g.1033T>G | |
| NG_009262.1:g.18041T>G , LRG_554:g.18041T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1158T>G MANE Select | ENSP00000329546.4:p.His386Gln | |
| ENST00000346342.7:c.1158T>G | ENSP00000329546.3:p.His386Gln | |
| ENST00000375581.3:c.1224T>G | ENSP00000364731.3:p.His408Gln | |
| ENST00000541084.5:c.972T>G | ENSP00000442051.2:p.His324Gln | |
| NM_000131.4:c.1224T>G , LRG_554t1:c.1224T>G | NP_000122.1:p.His408Gln | |
| NM_001267554.1:c.972T>G | NP_001254483.1:p.His324Gln | |
| NM_019616.3:c.1158T>G , LRG_554t2:c.1158T>G | NP_062562.1:p.His386Gln | |
| NR_051961.1:n.1245T>G | ||
| XM_006719963.2:c.1017T>G | XP_006720026.1:p.His339Gln | |
| XM_011537474.1:c.1266T>G | XP_011535776.1:p.His422Gln | |
| XM_011537475.1:c.1080T>G | XP_011535777.1:p.His360Gln | |
| XM_011537476.1:c.918T>G | XP_011535778.1:p.His306Gln | |
| XM_011537477.1:c.1227T>G | XP_011535779.1:p.His409Gln | |
| XM_006719963.3:c.1062T>G | XP_006720026.2:p.His354Gln | |
| XM_011537474.2:c.1311T>G | XP_011535776.2:p.His437Gln | |
| XM_011537475.2:c.1125T>G | XP_011535777.2:p.His375Gln | |
| XM_011537476.2:c.918T>G | XP_011535778.1:p.His306Gln | |
| NM_019616.4:c.1158T>G MANE Select | NP_062562.1:p.His386Gln | |
| NR_051961.2:n.1242T>G | ||
| NM_001267554.2:c.972T>G | NP_001254483.1:p.His324Gln |