Linked Data
ClinVar Variation Id:
1757975
ClinVar RCV Id:
RCV002382550
dbSNP Id:
rs1555286060
gnomAD v4:
13-32355116-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32355116G>C , CM000675.2:g.32355116G>C | GRCh38 |
| NC_000013.10:g.32929253G>C , CM000675.1:g.32929253G>C | GRCh37 |
| NC_000013.9:g.31827253G>C | NCBI36 |
| NG_012772.3:g.44637G>C , LRG_293:g.44637G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.7263G>C | ENSP00000434898.2:p.Gln2421His | |
| ENST00000528762.2:c.7263G>C | ENSP00000433168.2:p.Gln2421His | |
| ENST00000530893.7:c.6894G>C | ENSP00000499438.2:p.Gln2298His | |
| ENST00000665585.2:c.7263G>C | ENSP00000499570.2:p.Gln2421His | |
| ENST00000666593.2:c.7263G>C | ENSP00000499256.2:p.Gln2421His | |
| ENST00000700202.2:c.7263G>C | ENSP00000514856.2:p.Gln2421His | |
| ENST00000380152.8:c.7263G>C MANE Select | ENSP00000369497.3:p.Gln2421His | |
| ENST00000544455.6:c.7263G>C | ENSP00000439902.1:p.Gln2421His | |
| ENST00000614259.2:c.7263G>C | ENSP00000506251.1:p.Gln2421His | |
| ENST00000680887.1:c.7263G>C | ENSP00000505508.1:p.Gln2421His | |
| ENST00000380152.7:c.7263G>C | ENSP00000369497.3:p.Gln2421His | |
| ENST00000544455.5:c.7263G>C | ENSP00000439902.1:p.Gln2421His | |
| ENST00000614259.1:n.7263G>C | ||
| NM_000059.3:c.7263G>C , LRG_293t1:c.7263G>C | NP_000050.2:p.Gln2421His | |
| XM_011535203.1:c.7263G>C | XP_011533505.1:p.Gln2421His | |
| XM_011535204.1:c.7167G>C | XP_011533506.1:p.Gln2389His | |
| XM_011535205.1:c.7263G>C | XP_011533507.1:p.Gln2421His | |
| NM_000059.4:c.7263G>C MANE Select | NP_000050.3:p.Gln2421His |