Linked Data
ClinVar Variation Id:
2059561
ClinVar RCV Id:
RCV002952865
gnomAD v4:
9-97675571-T-C
MyVariant Identifiers:
chr9:g.100437853T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675571T>C , CM000671.2:g.97675571T>C | GRCh38 |
| NC_000009.11:g.100437853T>C , CM000671.1:g.100437853T>C | GRCh37 |
| NC_000009.10:g.99477674T>C | NCBI36 |
| NG_011642.1:g.26839A>G , LRG_471:g.26839A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.690A>G MANE Select | ENSP00000364270.5:p.Val230= | |
| ENST00000375128.4:c.690A>G | ENSP00000364270.4:p.Val230= | |
| ENST00000462523.5:c.*126A>G | ENSP00000433006.1:n.*126A>G | |
| ENST00000485042.1:n.202A>G | ||
| NM_000380.3:c.690A>G , LRG_471t1:c.690A>G | NP_000371.1:p.Val230= | |
| NR_027302.1:n.1038A>G | ||
| XM_006717278.1:c.690A>G | XP_006717341.1:p.Val230= | |
| XM_011518988.1:c.690A>G | XP_011517290.1:p.Val230= | |
| XR_929839.1:n.1221A>G | ||
| NM_001354975.1:c.564A>G | NP_001341904.1:p.Val188= | |
| NR_149091.1:n.535A>G | ||
| NR_149092.1:n.701A>G | ||
| NR_149093.1:n.1227A>G | ||
| NR_149094.1:n.1121A>G | ||
| NM_000380.4:c.690A>G MANE Select | NP_000371.1:p.Val230= | |
| NM_001354975.2:c.564A>G | NP_001341904.1:p.Val188= | |
| NR_027302.2:n.969A>G | ||
| NR_149091.2:n.466A>G | ||
| NR_149092.2:n.632A>G | ||
| NR_149093.2:n.1158A>G | ||
| NR_149094.2:n.1052A>G |