Linked Data
dbSNP Id:
rs2084174128
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45293267T>C , CM000684.2:g.45293267T>C | GRCh38 |
| NC_000022.10:g.45689148T>C , CM000684.1:g.45689148T>C | GRCh37 |
| NC_000022.9:g.44067812T>C | NCBI36 |
| NG_016203.1:g.13281T>C | |
| NG_016203.2:g.13281T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216211.9:c.658T>C MANE Select | ENSP00000216211.4:p.Phe220Leu | |
| ENST00000216211.8:c.658T>C | ENSP00000216211.4:p.Phe220Leu | |
| ENST00000396082.2:c.295T>C | ENSP00000379391.2:p.Phe99Leu | |
| NM_001167574.1:c.295T>C | NP_001161046.1:p.Phe99Leu | |
| NM_006953.3:c.658T>C | NP_008884.1:p.Phe220Leu | |
| XM_011530364.1:c.664T>C | XP_011528666.1:p.Phe222Leu | |
| XM_011530365.1:c.301T>C | XP_011528667.1:p.Phe101Leu | |
| NM_006953.4:c.658T>C MANE Select | NP_008884.1:p.Phe220Leu | |
| NM_001167574.2:c.295T>C | NP_001161046.1:p.Phe99Leu |