Linked Data
dbSNP Id:
rs773869003
ExAC:
12:80878366 G / C
gnomAD v2:
12-80878366-G-C
gnomAD v3:
12-80484587-G-C
gnomAD v4:
12-80484587-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80484587G>C , CM000674.2:g.80484587G>C | GRCh38 |
| NC_000012.11:g.80878366G>C , CM000674.1:g.80878366G>C | GRCh37 |
| NC_000012.10:g.79402497G>C | NCBI36 |
| NG_034052.1:g.45242G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.1341G>C MANE Select | ENSP00000495607.1:p.Leu447Phe | |
| ENST00000614701.4:c.1341G>C | ENSP00000482885.1:p.Leu447Phe | |
| ENST00000616559.4:c.1467G>C | ENSP00000483259.1:p.Leu489Phe | |
| NM_001145026.1:c.1341G>C | NP_001138498.1:p.Leu447Phe | |
| XM_011538290.1:c.1341G>C | XP_011536592.1:p.Leu447Phe | |
| XM_017019273.1:c.2007G>C | XP_016874762.1:p.Leu669Phe | |
| XM_017019274.1:c.2007G>C | XP_016874763.1:p.Leu669Phe | |
| XM_017019275.1:c.2007G>C | XP_016874764.1:p.Leu669Phe | |
| XR_001748688.1:n.2144G>C | ||
| XR_001748689.1:n.2144G>C | ||
| NM_001145026.2:c.1341G>C MANE Select | NP_001138498.1:p.Leu447Phe |