Linked Data
dbSNP Id:
rs187939933
ExAC:
14:51404529 A / C
gnomAD v2:
14-51404529-A-C
gnomAD v3:
14-50937811-A-C
gnomAD v4:
14-50937811-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50937811A>C , CM000676.2:g.50937811A>C | GRCh38 |
| NC_000014.8:g.51404529A>C , CM000676.1:g.51404529A>C | GRCh37 |
| NC_000014.7:g.50474279A>C | NCBI36 |
| NG_012796.1:g.11720T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.270T>G MANE Select | ENSP00000216392.7:p.Phe90Leu | |
| ENST00000216392.7:c.270T>G | ENSP00000216392.7:p.Phe90Leu | |
| ENST00000530336.2:n.337T>G | ||
| ENST00000532462.5:c.270T>G | ENSP00000431657.1:p.Phe90Leu | |
| ENST00000544180.6:c.244-2626T>G | ENSP00000443787.1:n.244-2626T>G | |
| NM_001163940.1:c.244-2626T>G | NP_001157412.1:n.244-2626T>G | |
| NM_002863.4:c.270T>G | NP_002854.3:p.Phe90Leu | |
| NM_002863.5:c.270T>G MANE Select | NP_002854.3:p.Phe90Leu | |
| NM_001163940.2:c.244-2626T>G | NP_001157412.1:n.244-2626T>G |