Linked Data
dbSNP Id:
rs770358411
ExAC:
9:100437641 T / C
gnomAD v2:
9-100437641-T-C
gnomAD v3:
9-97675359-T-C
gnomAD v4:
9-97675359-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675359T>C , CM000671.2:g.97675359T>C | GRCh38 |
| NC_000009.11:g.100437641T>C , CM000671.1:g.100437641T>C | GRCh37 |
| NC_000009.10:g.99477462T>C | NCBI36 |
| NG_011642.1:g.27051A>G , LRG_471:g.27051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.*80A>G MANE Select | ENSP00000364270.5:n.*80A>G | |
| ENST00000375128.4:c.*80A>G | ENSP00000364270.4:n.*80A>G | |
| ENST00000462523.5:c.*338A>G | ENSP00000433006.1:n.*338A>G | |
| ENST00000485042.1:n.414A>G | ||
| NM_000380.3:c.*80A>G , LRG_471t1:c.*80A>G | NP_000371.1:n.*80A>G | |
| NR_027302.1:n.1250A>G | ||
| XM_006717278.1:c.772+130A>G | XP_006717341.1:n.772+130A>G | |
| XM_011518988.1:c.772+130A>G | XP_011517290.1:n.772+130A>G | |
| NM_001354975.1:c.*80A>G | NP_001341904.1:n.*80A>G | |
| NR_149091.1:n.747A>G | ||
| NR_149092.1:n.913A>G | ||
| NR_149093.1:n.1439A>G | ||
| NR_149094.1:n.1333A>G | ||
| NM_000380.4:c.*80A>G MANE Select | NP_000371.1:n.*80A>G | |
| NM_001354975.2:c.*80A>G | NP_001341904.1:n.*80A>G | |
| NR_027302.2:n.1181A>G | ||
| NR_149091.2:n.678A>G | ||
| NR_149092.2:n.844A>G | ||
| NR_149093.2:n.1370A>G | ||
| NR_149094.2:n.1264A>G |