Linked Data
dbSNP Id:
rs112573107
gnomAD v2:
8-87588303-T-A
gnomAD v3:
8-86576075-T-A
gnomAD v4:
8-86576075-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576075T>A , CM000670.2:g.86576075T>A | GRCh38 |
| NC_000008.10:g.87588303T>A , CM000670.1:g.87588303T>A | GRCh37 |
| NC_000008.9:g.87657419T>A | NCBI36 |
| NG_016980.1:g.172601A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2159A>T MANE Select | ENSP00000316605.5:p.Gln720Leu | |
| ENST00000681546.1:n.1979A>T | ||
| ENST00000681746.1:c.*570A>T | ENSP00000505959.1:n.*570A>T | |
| ENST00000320005.5:c.2159A>T | ENSP00000316605.5:p.Gln720Leu | |
| ENST00000517327.5:c.276+2614A>T | ENSP00000428329.1:n.276+2614A>T | |
| NM_019098.4:c.2159A>T | NP_061971.3:p.Gln720Leu | |
| XM_011517138.1:c.1745A>T | XP_011515440.1:p.Gln582Leu | |
| XM_011517138.2:c.1745A>T | XP_011515440.1:p.Gln582Leu | |
| NM_019098.5:c.2159A>T MANE Select | NP_061971.3:p.Gln720Leu |