Linked Data
dbSNP Id:
rs1824035364
gnomAD v4:
9-27173304-C-T
MyVariant Identifiers:
chr9:g.27173302C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27173304C>T , CM000671.2:g.27173304C>T | GRCh38 |
| NC_000009.11:g.27173302C>T , CM000671.1:g.27173302C>T | GRCh37 |
| NC_000009.10:g.27163302C>T | NCBI36 |
| NG_011828.1:g.69156C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.843C>T MANE Select | ENSP00000369375.4:p.Leu281= | |
| ENST00000380036.8:c.843C>T | ENSP00000369375.4:p.Leu281= | |
| ENST00000406359.8:c.843C>T | ENSP00000383977.4:p.Leu281= | |
| ENST00000519080.1:c.402C>T | ENSP00000428337.1:p.Leu134= | |
| ENST00000519097.5:c.531C>T | ENSP00000430686.1:p.Leu177= | |
| ENST00000615002.4:c.843C>T | ENSP00000480251.1:p.Leu281= | |
| NM_000459.4:c.843C>T | NP_000450.2:p.Leu281= | |
| NM_001290077.1:c.843C>T | NP_001277006.1:p.Leu281= | |
| NM_001290078.1:c.531C>T | NP_001277007.1:p.Leu177= | |
| XM_005251561.1:c.843C>T | XP_005251618.1:p.Leu281= | |
| XM_005251563.1:c.843C>T | XP_005251620.1:p.Leu281= | |
| XM_005251561.2:c.843C>T | XP_005251618.1:p.Leu281= | |
| XM_005251563.2:c.843C>T | XP_005251620.1:p.Leu281= | |
| NM_000459.5:c.843C>T MANE Select | NP_000450.3:p.Leu281= | |
| NM_001375475.1:c.843C>T | NP_001362404.1:p.Leu281= | |
| NM_001375476.1:c.843C>T | NP_001362405.1:p.Leu281= |