Linked Data
ClinVar Variation Id:
135196
dbSNP Id:
rs141802836
ExAC:
11:111958629 T / G
gnomAD v2:
11-111958629-T-G
gnomAD v3:
11-112087905-T-G
gnomAD v4:
11-112087905-T-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112087905T>G , CM000673.2:g.112087905T>G | GRCh38 |
| NC_000011.9:g.111958629T>G , CM000673.1:g.111958629T>G | GRCh37 |
| NC_000011.8:g.111463839T>G | NCBI36 |
| NG_012337.2:g.6059T>G | |
| NG_033145.1:g.3894A>C | |
| NG_012337.3:g.6059T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530923.6:c.101T>G | ENSP00000432946.2:p.Phe34Cys | |
| ENST00000534010.2:c.101T>G | ENSP00000433202.2:p.Phe34Cys | |
| ENST00000375549.8:c.101T>G MANE Select | ENSP00000364699.3:p.Phe34Cys | |
| ENST00000528021.6:c.101T>G | ENSP00000432465.1:p.Phe34Cys | |
| ENST00000640554.1:c.101T>G | ENSP00000491141.1:p.Phe34Cys | |
| ENST00000375549.7:c.101T>G | ENSP00000364699.3:p.Phe34Cys | |
| ENST00000525291.5:c.52+946T>G | ENSP00000436669.1:n.52+946T>G | |
| ENST00000525987.5:n.106T>G | ||
| ENST00000526592.5:c.101T>G | ENSP00000432005.1:p.Phe34Cys | |
| ENST00000528021.5:c.101T>G | ENSP00000432465.1:p.Phe34Cys | |
| ENST00000528048.5:c.101T>G | ENSP00000436217.1:p.Phe34Cys | |
| ENST00000528182.5:c.101T>G | ENSP00000435475.1:p.Phe34Cys | |
| ENST00000530923.5:c.91T>G | ||
| ENST00000531744.5:c.101T>G | ENSP00000456957.1:p.Phe34Cys | |
| ENST00000532699.1:c.101T>G | ENSP00000456434.1:p.Phe34Cys | |
| ENST00000614349.4:c.101T>G | ENSP00000480666.1:p.Phe34Cys | |
| NM_001276503.1:c.101T>G | NP_001263432.1:p.Phe34Cys | |
| NM_001276504.1:c.52+946T>G | NP_001263433.1:n.52+946T>G | |
| NM_001276506.1:c.101T>G | NP_001263435.1:p.Phe34Cys | |
| NM_003002.3:c.101T>G | NP_002993.1:p.Phe34Cys | |
| NR_077060.1:n.185T>G | ||
| NM_003002.4:c.101T>G MANE Select | NP_002993.1:p.Phe34Cys | |
| NM_001276503.2:c.101T>G | NP_001263432.1:p.Phe34Cys | |
| NM_001276504.2:c.52+946T>G | NP_001263433.1:n.52+946T>G | |
| NM_001276506.2:c.101T>G | NP_001263435.1:p.Phe34Cys | |
| NR_077060.2:n.136T>G |