Linked Data
ClinVar Variation Id:
8508
ClinVar RCV Id:
RCV000009033
dbSNP Id:
rs121908227
PubMed:
PMID:11723274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13261495A>C , CM000681.2:g.13261495A>C | GRCh38 |
| NC_000019.9:g.13372309A>C , CM000681.1:g.13372309A>C | GRCh37 |
| NC_000019.8:g.13233309A>C | NCBI36 |
| NG_011569.1:g.249966T>G , LRG_7:g.249966T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360228.11:c.4205T>G MANE Select | ENSP00000353362.5:p.Phe1402Cys | |
| ENST00000573710.7:c.4211T>G | ENSP00000460092.3:p.Phe1404Cys | |
| ENST00000590205.2:n.1211T>G | ||
| ENST00000635727.1:c.4208T>G | ENSP00000490001.1:p.Phe1403Cys | |
| ENST00000635742.1:n.194T>G | ||
| ENST00000635895.1:c.4208T>G | ENSP00000490323.1:p.Phe1403Cys | |
| ENST00000635917.1:n.697T>G | ||
| ENST00000636012.1:c.4208T>G | ENSP00000490223.1:p.Phe1403Cys | |
| ENST00000636389.1:c.4208T>G | ENSP00000489992.1:p.Phe1403Cys | |
| ENST00000636549.1:c.4208T>G | ENSP00000490578.1:p.Phe1403Cys | |
| ENST00000636816.1:n.893T>G | ||
| ENST00000637004.1:n.671T>G | ||
| ENST00000637276.1:c.4208T>G | ENSP00000489777.1:p.Phe1403Cys | |
| ENST00000637432.1:c.4217T>G | ENSP00000490617.1:p.Phe1406Cys | |
| ENST00000637692.1:n.527T>G | ||
| ENST00000637736.1:c.4067T>G | ENSP00000489861.1:p.Phe1356Cys | |
| ENST00000637769.1:c.4208T>G | ENSP00000489778.1:p.Phe1403Cys | |
| ENST00000637927.1:c.4211T>G | ENSP00000489715.1:p.Phe1404Cys | |
| ENST00000638009.2:c.4208T>G | ENSP00000489913.1:p.Phe1403Cys | |
| ENST00000638029.1:c.4217T>G | ENSP00000489829.1:p.Phe1406Cys | |
| ENST00000664864.1:c.4403T>G | ENSP00000499449.1:p.Phe1468Cys | |
| ENST00000360228.9:c.4205T>G | ENSP00000353362.5:p.Phe1402Cys | |
| ENST00000573710.6:c.4208T>G | ENSP00000460092.2:p.Phe1403Cys | |
| ENST00000585802.5:c.263T>G | ENSP00000465598.1:p.Phe88Cys | |
| ENST00000590205.1:n.284T>G | ||
| ENST00000614285.4:c.4217T>G | ENSP00000479983.1:p.Phe1406Cys | |
| NM_000068.3:c.4217T>G | NP_000059.3:p.Phe1406Cys | |
| NM_001127221.1:c.4208T>G , LRG_7t1:c.4208T>G | NP_001120693.1:p.Phe1403Cys | |
| NM_001127222.1:c.4205T>G | NP_001120694.1:p.Phe1402Cys | |
| NM_001174080.1:c.4208T>G | NP_001167551.1:p.Phe1403Cys | |
| NM_023035.2:c.4217T>G | NP_075461.2:p.Phe1406Cys | |
| NM_000068.4:c.4217T>G | NP_000059.3:p.Phe1406Cys | |
| NM_001127222.2:c.4205T>G MANE Select | NP_001120694.1:p.Phe1402Cys | |
| NM_001174080.2:c.4208T>G | NP_001167551.1:p.Phe1403Cys | |
| NM_023035.3:c.4217T>G | NP_075461.2:p.Phe1406Cys | |
| NM_001127221.2:c.4208T>G | NP_001120693.1:p.Phe1403Cys |