Linked Data
ClinVar Variation Id:
1924431
ClinVar RCV Id:
RCV002613775
dbSNP Id:
rs1242455251
gnomAD v3:
2-85553012-G-A
gnomAD v4:
2-85553012-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553012G>A , CM000664.2:g.85553012G>A | GRCh38 |
| NC_000002.11:g.85780135G>A , CM000664.1:g.85780135G>A | GRCh37 |
| NC_000002.10:g.85633646G>A | NCBI36 |
| NG_011811.2:g.13523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5258C>T | ||
| ENST00000482662.2:n.3665C>T | ||
| ENST00000685865.1:n.1617C>T | ||
| ENST00000687250.1:n.1317C>T | ||
| ENST00000687995.1:n.1566C>T | ||
| ENST00000688205.1:c.*807C>T | ENSP00000509673.1:n.*807C>T | |
| ENST00000688788.1:n.1453C>T | ||
| ENST00000689276.1:c.1145C>T | ENSP00000510012.1:p.Ser382Phe | |
| ENST00000689576.1:c.1214C>T | ENSP00000508712.1:p.Ser405Phe | |
| ENST00000690108.1:c.*870C>T | ENSP00000510617.1:n.*870C>T | |
| ENST00000690468.1:c.935C>T | ENSP00000509078.1:p.Ser312Phe | |
| ENST00000690595.1:c.539C>T | ENSP00000508979.1:p.Ser180Phe | |
| ENST00000691348.1:c.1043C>T | ENSP00000509369.1:p.Ser348Phe | |
| ENST00000691410.1:c.*791C>T | ENSP00000508479.1:n.*791C>T | |
| ENST00000693287.1:c.530C>T | ENSP00000510264.1:p.Ser177Phe | |
| ENST00000693681.1:c.527C>T | ENSP00000510789.1:p.Ser176Phe | |
| ENST00000233838.9:c.1214C>T MANE Select | ENSP00000233838.3:p.Ser405Phe | |
| ENST00000233838.8:c.1214C>T | ENSP00000233838.3:p.Ser405Phe | |
| ENST00000430215.7:c.1043C>T | ENSP00000408045.3:p.Ser348Phe | |
| ENST00000465637.5:n.179-5008C>T | ||
| ENST00000473665.1:n.707C>T | ||
| ENST00000482662.1:n.631C>T | ||
| NM_000821.5:c.1214C>T | NP_000812.2:p.Ser405Phe | |
| NM_000821.6:c.1214C>T | NP_000812.2:p.Ser405Phe | |
| NM_001142269.2:c.1043C>T | NP_001135741.1:p.Ser348Phe | |
| NM_001142269.3:c.1043C>T | NP_001135741.1:p.Ser348Phe | |
| XM_005264259.3:c.1214C>T | XP_005264316.1:p.Ser405Phe | |
| XM_011532764.1:c.392C>T | XP_011531066.1:p.Ser131Phe | |
| XM_011532765.1:c.392C>T | XP_011531067.1:p.Ser131Phe | |
| XR_939677.1:n.1279C>T | ||
| XM_005264259.5:c.1214C>T | XP_005264316.1:p.Ser405Phe | |
| XM_011532764.3:c.392C>T | XP_011531066.1:p.Ser131Phe | |
| XM_011532765.3:c.392C>T | XP_011531067.1:p.Ser131Phe | |
| XM_017003803.2:c.1043C>T | XP_016859292.1:p.Ser348Phe | |
| XR_001738703.2:n.1279C>T | ||
| NM_000821.7:c.1214C>T MANE Select | NP_000812.2:p.Ser405Phe | |
| NM_001142269.4:c.1043C>T | NP_001135741.1:p.Ser348Phe |