Linked Data
dbSNP Id:
rs572299128
ExAC:
9:27173294 T / C
gnomAD v2:
9-27173294-T-C
gnomAD v3:
9-27173296-T-C
gnomAD v4:
9-27173296-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27173296T>C , CM000671.2:g.27173296T>C | GRCh38 |
| NC_000009.11:g.27173294T>C , CM000671.1:g.27173294T>C | GRCh37 |
| NC_000009.10:g.27163294T>C | NCBI36 |
| NG_011828.1:g.69148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.835T>C MANE Select | ENSP00000369375.4:p.Phe279Leu | |
| ENST00000380036.8:c.835T>C | ENSP00000369375.4:p.Phe279Leu | |
| ENST00000406359.8:c.835T>C | ENSP00000383977.4:p.Phe279Leu | |
| ENST00000519080.1:c.394T>C | ENSP00000428337.1:p.Phe132Leu | |
| ENST00000519097.5:c.523T>C | ENSP00000430686.1:p.Phe175Leu | |
| ENST00000615002.4:c.835T>C | ENSP00000480251.1:p.Phe279Leu | |
| NM_000459.4:c.835T>C | NP_000450.2:p.Phe279Leu | |
| NM_001290077.1:c.835T>C | NP_001277006.1:p.Phe279Leu | |
| NM_001290078.1:c.523T>C | NP_001277007.1:p.Phe175Leu | |
| XM_005251561.1:c.835T>C | XP_005251618.1:p.Phe279Leu | |
| XM_005251563.1:c.835T>C | XP_005251620.1:p.Phe279Leu | |
| XM_005251561.2:c.835T>C | XP_005251618.1:p.Phe279Leu | |
| XM_005251563.2:c.835T>C | XP_005251620.1:p.Phe279Leu | |
| NM_000459.5:c.835T>C MANE Select | NP_000450.3:p.Phe279Leu | |
| NM_001375475.1:c.835T>C | NP_001362404.1:p.Phe279Leu | |
| NM_001375476.1:c.835T>C | NP_001362405.1:p.Phe279Leu |