Linked Data
ClinVar Variation Id:
16196
dbSNP Id:
rs121909684
ExAC:
2:85780611 G / A
gnomAD v2:
2-85780611-G-A
gnomAD v3:
2-85553488-G-A
gnomAD v4:
2-85553488-G-A
PubMed:
PMID:18800149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553488G>A , CM000664.2:g.85553488G>A | GRCh38 |
| NC_000002.11:g.85780611G>A , CM000664.1:g.85780611G>A | GRCh37 |
| NC_000002.10:g.85634122G>A | NCBI36 |
| NG_011811.2:g.13047C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.4943C>T | ||
| ENST00000482662.2:n.3350C>T | ||
| ENST00000685865.1:n.1302C>T | ||
| ENST00000687250.1:n.1002C>T | ||
| ENST00000687995.1:n.1251C>T | ||
| ENST00000688205.1:c.*492C>T | ENSP00000509673.1:n.*492C>T | |
| ENST00000688788.1:n.1138C>T | ||
| ENST00000689276.1:c.830C>T | ENSP00000510012.1:p.Ser277Phe | |
| ENST00000689576.1:c.899C>T | ENSP00000508712.1:p.Ser300Phe | |
| ENST00000690108.1:c.*555C>T | ENSP00000510617.1:n.*555C>T | |
| ENST00000690468.1:c.620C>T | ENSP00000509078.1:p.Ser207Phe | |
| ENST00000690595.1:c.224C>T | ENSP00000508979.1:p.Ser75Phe | |
| ENST00000691348.1:c.728C>T | ENSP00000509369.1:p.Ser243Phe | |
| ENST00000691410.1:c.*476C>T | ENSP00000508479.1:n.*476C>T | |
| ENST00000693287.1:c.215C>T | ENSP00000510264.1:p.Ser72Phe | |
| ENST00000693681.1:c.212C>T | ENSP00000510789.1:p.Ser71Phe | |
| ENST00000233838.9:c.899C>T MANE Select | ENSP00000233838.3:p.Ser300Phe | |
| ENST00000233838.8:c.899C>T | ENSP00000233838.3:p.Ser300Phe | |
| ENST00000430215.7:c.728C>T | ENSP00000408045.3:p.Ser243Phe | |
| ENST00000465637.5:n.179-5484C>T | ||
| ENST00000473665.1:n.392C>T | ||
| ENST00000482662.1:n.316C>T | ||
| NM_000821.5:c.899C>T | NP_000812.2:p.Ser300Phe | |
| NM_000821.6:c.899C>T | NP_000812.2:p.Ser300Phe | |
| NM_001142269.2:c.728C>T | NP_001135741.1:p.Ser243Phe | |
| NM_001142269.3:c.728C>T | NP_001135741.1:p.Ser243Phe | |
| XM_005264259.3:c.899C>T | XP_005264316.1:p.Ser300Phe | |
| XM_011532764.1:c.77C>T | XP_011531066.1:p.Ser26Phe | |
| XM_011532765.1:c.77C>T | XP_011531067.1:p.Ser26Phe | |
| XR_939677.1:n.964C>T | ||
| XM_005264259.5:c.899C>T | XP_005264316.1:p.Ser300Phe | |
| XM_011532764.3:c.77C>T | XP_011531066.1:p.Ser26Phe | |
| XM_011532765.3:c.77C>T | XP_011531067.1:p.Ser26Phe | |
| XM_017003803.2:c.728C>T | XP_016859292.1:p.Ser243Phe | |
| XR_001738703.2:n.964C>T | ||
| NM_000821.7:c.899C>T MANE Select | NP_000812.2:p.Ser300Phe | |
| NM_001142269.4:c.728C>T | NP_001135741.1:p.Ser243Phe |