Linked Data
dbSNP Id:
rs1323170131
gnomAD v2:
8-87586578-T-C
gnomAD v3:
8-86574350-T-C
gnomAD v4:
8-86574350-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86574350T>C , CM000670.2:g.86574350T>C | GRCh38 |
| NC_000008.10:g.87586578T>C , CM000670.1:g.87586578T>C | GRCh37 |
| NC_000008.9:g.87655694T>C | NCBI36 |
| NG_016980.1:g.174326A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.*1454A>G MANE Select | ENSP00000316605.5:n.*1454A>G | |
| ENST00000681546.1:n.3704A>G | ||
| ENST00000681746.1:c.*2295A>G | ENSP00000505959.1:n.*2295A>G | |
| ENST00000320005.5:c.*1454A>G | ENSP00000316605.5:n.*1454A>G | |
| ENST00000517327.5:c.276+4339A>G | ENSP00000428329.1:n.276+4339A>G | |
| NM_019098.4:c.*1454A>G | NP_061971.3:n.*1454A>G | |
| XM_011517138.1:c.*1454A>G | XP_011515440.1:n.*1454A>G | |
| XM_011517138.2:c.*1454A>G | XP_011515440.1:n.*1454A>G | |
| NM_019098.5:c.*1454A>G MANE Select | NP_061971.3:n.*1454A>G |