Linked Data
dbSNP Id:
rs748953052
ExAC:
11:116703550 T / C
gnomAD v2:
11-116703550-T-C
gnomAD v4:
11-116832834-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832834T>C , CM000673.2:g.116832834T>C | GRCh38 |
| NC_000011.9:g.116703550T>C , CM000673.1:g.116703550T>C | GRCh37 |
| NC_000011.8:g.116208760T>C | NCBI36 |
| NG_008949.1:g.7927T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.250T>C MANE Select | ENSP00000227667.2:p.Phe84Leu | |
| ENST00000227667.7:c.250T>C | ENSP00000227667.2:p.Phe84Leu | |
| ENST00000375345.3:c.304T>C | ENSP00000364494.1:p.Phe102Leu | |
| ENST00000630701.1:c.304T>C | ENSP00000486182.1:p.Phe102Leu | |
| NM_000040.1:c.250T>C | NP_000031.1:p.Phe84Leu | |
| NM_000040.2:c.250T>C | NP_000031.1:p.Phe84Leu | |
| NM_000040.3:c.250T>C MANE Select | NP_000031.1:p.Phe84Leu |