Linked Data
dbSNP Id:
rs201727993
gnomAD v3:
12-1780564-C-T
gnomAD v4:
12-1780564-C-T
COSMIC:
COSM692948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1780564C>T , CM000674.2:g.1780564C>T | GRCh38 |
| NC_000012.11:g.1889730C>T , CM000674.1:g.1889730C>T | GRCh37 |
| NC_000012.10:g.1759991C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.577C>T MANE Select | ENSP00000349616.4:p.Leu193Phe | |
| ENST00000357103.4:c.577C>T | ENSP00000349616.4:p.Leu193Phe | |
| ENST00000537190.1:n.417C>T | ||
| NM_024551.2:c.577C>T | NP_078827.2:p.Leu193Phe | |
| XM_005253789.1:c.577C>T | XP_005253846.1:p.Leu193Phe | |
| XM_006719018.1:c.577C>T | XP_006719081.1:p.Leu193Phe | |
| XM_011521024.1:c.577C>T | XP_011519326.1:p.Leu193Phe | |
| XM_011521025.1:c.463+2539C>T | XP_011519327.1:n.463+2539C>T | |
| XM_005253789.2:c.577C>T | XP_005253846.1:p.Leu193Phe | |
| XM_006719018.2:c.577C>T | XP_006719081.1:p.Leu193Phe | |
| XM_011521024.2:c.577C>T | XP_011519326.1:p.Leu193Phe | |
| NM_024551.3:c.577C>T MANE Select | NP_078827.2:p.Leu193Phe | |
| NM_001375363.1:c.577C>T | NP_001362292.1:p.Leu193Phe | |
| NM_001375364.1:c.577C>T | NP_001362293.1:p.Leu193Phe | |
| NM_001375365.1:c.577C>T | NP_001362294.1:p.Leu193Phe |