Linked Data
ClinVar Variation Id:
190206
dbSNP Id:
rs1800975
ExAC:
9:100459578 T / C
gnomAD v2:
9-100459578-T-C
gnomAD v3:
9-97697296-T-C
gnomAD v4:
9-97697296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97697296T>C , CM000671.2:g.97697296T>C | GRCh38 |
| NC_000009.11:g.100459578T>C , CM000671.1:g.100459578T>C | GRCh37 |
| NC_000009.10:g.99499399T>C | NCBI36 |
| NG_011642.1:g.5114A>G , LRG_471:g.5114A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.-4A>G MANE Select | ENSP00000364270.5:n.-4A>G | |
| ENST00000375128.4:c.-4A>G | ENSP00000364270.4:n.-4A>G | |
| NM_000380.3:c.-4A>G , LRG_471t1:c.-4A>G | NP_000371.1:n.-4A>G | |
| NR_027302.1:n.114A>G | ||
| XM_006717278.1:c.-4A>G | XP_006717341.1:n.-4A>G | |
| XM_011518988.1:c.-4A>G | XP_011517290.1:n.-4A>G | |
| XR_929839.1:n.108A>G | ||
| NM_001354975.1:c.-1153A>G | NP_001341904.1:n.-1153A>G | |
| NR_149091.1:n.114A>G | ||
| NR_149092.1:n.114A>G | ||
| NR_149093.1:n.114A>G | ||
| NR_149094.1:n.114A>G | ||
| NM_000380.4:c.-4A>G MANE Select | NP_000371.1:n.-4A>G | |
| NM_001354975.2:c.-1153A>G | NP_001341904.1:n.-1153A>G | |
| NR_027302.2:n.45A>G | ||
| NR_149091.2:n.45A>G | ||
| NR_149092.2:n.45A>G | ||
| NR_149093.2:n.45A>G | ||
| NR_149094.2:n.45A>G |