Linked Data
dbSNP Id:
rs760011508
ExAC:
3:119132895 T / C
gnomAD v2:
3-119132895-T-C
gnomAD v3:
3-119414048-T-C
gnomAD v4:
3-119414048-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414048T>C , CM000665.2:g.119414048T>C | GRCh38 |
| NC_000003.11:g.119132895T>C , CM000665.1:g.119132895T>C | GRCh37 |
| NC_000003.10:g.120615585T>C | NCBI36 |
| NG_007665.2:g.124676T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2119T>C MANE Select | ENSP00000264245.4:p.Phe707Leu | |
| ENST00000264245.8:c.2119T>C | ENSP00000264245.4:p.Phe707Leu | |
| NM_020754.3:c.2119T>C | NP_065805.2:p.Phe707Leu | |
| XM_005247671.3:c.2026T>C | XP_005247728.1:p.Phe676Leu | |
| XM_006713714.2:c.2059T>C | XP_006713777.1:p.Phe687Leu | |
| XM_006713714.3:c.2059T>C | XP_006713777.1:p.Phe687Leu | |
| XM_017006955.1:c.1627T>C | XP_016862444.1:p.Phe543Leu | |
| NM_020754.4:c.2119T>C MANE Select | NP_065805.2:p.Phe707Leu |