Linked Data
ClinVar Variation Id:
810395
ClinVar RCV Id:
RCV000999185
dbSNP Id:
rs1587736013
gnomAD v4:
9-97675504-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675504C>G , CM000671.2:g.97675504C>G | GRCh38 |
| NC_000009.11:g.100437786C>G , CM000671.1:g.100437786C>G | GRCh37 |
| NC_000009.10:g.99477607C>G | NCBI36 |
| NG_011642.1:g.26906G>C , LRG_471:g.26906G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.757G>C MANE Select | ENSP00000364270.5:p.Glu253Gln | |
| ENST00000375128.4:c.757G>C | ENSP00000364270.4:p.Glu253Gln | |
| ENST00000462523.5:c.*193G>C | ENSP00000433006.1:n.*193G>C | |
| ENST00000485042.1:n.269G>C | ||
| NM_000380.3:c.757G>C , LRG_471t1:c.757G>C | NP_000371.1:p.Glu253Gln | |
| NR_027302.1:n.1105G>C | ||
| XM_006717278.1:c.757G>C | XP_006717341.1:p.Glu253Gln | |
| XM_011518988.1:c.757G>C | XP_011517290.1:p.Glu253Gln | |
| XR_929839.1:n.1288G>C | ||
| NM_001354975.1:c.631G>C | NP_001341904.1:p.Glu211Gln | |
| NR_149091.1:n.602G>C | ||
| NR_149092.1:n.768G>C | ||
| NR_149093.1:n.1294G>C | ||
| NR_149094.1:n.1188G>C | ||
| NM_000380.4:c.757G>C MANE Select | NP_000371.1:p.Glu253Gln | |
| NM_001354975.2:c.631G>C | NP_001341904.1:p.Glu211Gln | |
| NR_027302.2:n.1036G>C | ||
| NR_149091.2:n.533G>C | ||
| NR_149092.2:n.699G>C | ||
| NR_149093.2:n.1225G>C | ||
| NR_149094.2:n.1119G>C |