Linked Data
ClinVar Variation Id:
1096042
ClinVar RCV Id:
RCV001417170
dbSNP Id:
rs16923331
MyVariant Identifiers:
chr9:g.100437859T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675577T>G , CM000671.2:g.97675577T>G | GRCh38 |
| NC_000009.11:g.100437859T>G , CM000671.1:g.100437859T>G | GRCh37 |
| NC_000009.10:g.99477680T>G | NCBI36 |
| NG_011642.1:g.26833A>C , LRG_471:g.26833A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.684A>C MANE Select | ENSP00000364270.5:p.Arg228= | |
| ENST00000375128.4:c.684A>C | ENSP00000364270.4:p.Arg228= | |
| ENST00000462523.5:c.*120A>C | ENSP00000433006.1:n.*120A>C | |
| ENST00000485042.1:n.196A>C | ||
| NM_000380.3:c.684A>C , LRG_471t1:c.684A>C | NP_000371.1:p.Arg228= | |
| NR_027302.1:n.1032A>C | ||
| XM_006717278.1:c.684A>C | XP_006717341.1:p.Arg228= | |
| XM_011518988.1:c.684A>C | XP_011517290.1:p.Arg228= | |
| XR_929839.1:n.1215A>C | ||
| NM_001354975.1:c.558A>C | NP_001341904.1:p.Arg186= | |
| NR_149091.1:n.529A>C | ||
| NR_149092.1:n.695A>C | ||
| NR_149093.1:n.1221A>C | ||
| NR_149094.1:n.1115A>C | ||
| NM_000380.4:c.684A>C MANE Select | NP_000371.1:p.Arg228= | |
| NM_001354975.2:c.558A>C | NP_001341904.1:p.Arg186= | |
| NR_027302.2:n.963A>C | ||
| NR_149091.2:n.460A>C | ||
| NR_149092.2:n.626A>C | ||
| NR_149093.2:n.1152A>C | ||
| NR_149094.2:n.1046A>C |