Linked Data
dbSNP Id:
rs759249708
ExAC:
2:85779015 G / A
gnomAD v2:
2-85779015-G-A
gnomAD v4:
2-85551892-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85551892G>A , CM000664.2:g.85551892G>A | GRCh38 |
| NC_000002.11:g.85779015G>A , CM000664.1:g.85779015G>A | GRCh37 |
| NC_000002.10:g.85632526G>A | NCBI36 |
| NG_011811.2:g.14643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.6007C>T | ||
| ENST00000482662.2:n.4414C>T | ||
| ENST00000685865.1:n.2366C>T | ||
| ENST00000687250.1:n.2066C>T | ||
| ENST00000687995.1:n.1881C>T | ||
| ENST00000688205.1:c.*1122C>T | ENSP00000509673.1:n.*1122C>T | |
| ENST00000688788.1:n.1768C>T | ||
| ENST00000689276.1:c.1460C>T | ENSP00000510012.1:p.Ser487Phe | |
| ENST00000689576.1:c.*148C>T | ENSP00000508712.1:n.*148C>T | |
| ENST00000690108.1:c.*1185C>T | ENSP00000510617.1:n.*1185C>T | |
| ENST00000690468.1:c.*81C>T | ENSP00000509078.1:n.*81C>T | |
| ENST00000690595.1:c.854C>T | ENSP00000508979.1:p.Ser285Phe | |
| ENST00000691348.1:c.*81C>T | ENSP00000509369.1:n.*81C>T | |
| ENST00000691410.1:c.*1106C>T | ENSP00000508479.1:n.*1106C>T | |
| ENST00000693287.1:c.845C>T | ENSP00000510264.1:p.Ser282Phe | |
| ENST00000693681.1:c.842C>T | ENSP00000510789.1:p.Ser281Phe | |
| ENST00000233838.9:c.1529C>T MANE Select | ENSP00000233838.3:p.Ser510Phe | |
| ENST00000233838.8:c.1529C>T | ENSP00000233838.3:p.Ser510Phe | |
| ENST00000430215.7:c.1358C>T | ENSP00000408045.3:p.Ser453Phe | |
| ENST00000465637.5:n.179-3888C>T | ||
| NM_000821.5:c.1529C>T | NP_000812.2:p.Ser510Phe | |
| NM_000821.6:c.1529C>T | NP_000812.2:p.Ser510Phe | |
| NM_001142269.2:c.1358C>T | NP_001135741.1:p.Ser453Phe | |
| NM_001142269.3:c.1358C>T | NP_001135741.1:p.Ser453Phe | |
| XM_005264259.3:c.1529C>T | XP_005264316.1:p.Ser510Phe | |
| XM_011532764.1:c.707C>T | XP_011531066.1:p.Ser236Phe | |
| XM_011532765.1:c.707C>T | XP_011531067.1:p.Ser236Phe | |
| XR_939677.1:n.1442C>T | ||
| XM_005264259.5:c.1529C>T | XP_005264316.1:p.Ser510Phe | |
| XM_011532764.3:c.707C>T | XP_011531066.1:p.Ser236Phe | |
| XM_011532765.3:c.707C>T | XP_011531067.1:p.Ser236Phe | |
| XM_017003803.2:c.1358C>T | XP_016859292.1:p.Ser453Phe | |
| XR_001738703.2:n.1442C>T | ||
| NM_000821.7:c.1529C>T MANE Select | NP_000812.2:p.Ser510Phe | |
| NM_001142269.4:c.1358C>T | NP_001135741.1:p.Ser453Phe |