Linked Data
ClinVar Variation Id:
11409
ClinVar RCV Id:
RCV000012162
dbSNP Id:
rs122467169
PubMed:
PMID:11137992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251698A>C , CM000685.2:g.49251698A>C | GRCh38 |
| NC_000023.10:g.49108159A>C , CM000685.1:g.49108159A>C | GRCh37 |
| NC_000023.9:g.48995103A>C | NCBI36 |
| NG_007392.1:g.18130T>G , LRG_62:g.18130T>G | |
| NG_021311.2:g.21234A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376199.7:c.1007T>G | ENSP00000365372.2:p.Phe336Cys | |
| ENST00000376207.10:c.1112T>G MANE Select | ENSP00000365380.4:p.Phe371Cys | |
| ENST00000455775.7:c.1181T>G | ENSP00000396415.3:p.Phe394Cys | |
| ENST00000518685.6:c.1031T>G | ENSP00000428952.2:p.Phe344Cys | |
| ENST00000557224.6:c.1007T>G | ENSP00000451208.1:p.Phe336Cys | |
| ENST00000651307.1:c.*27T>G | ENSP00000498454.1:n.*27T>G | |
| ENST00000376197.1:c.962T>G | ENSP00000365369.1:p.Phe321Cys | |
| ENST00000376199.6:c.1007T>G | ENSP00000365372.2:p.Phe336Cys | |
| ENST00000376207.8:c.1112T>G | ENSP00000365380.4:p.Phe371Cys | |
| ENST00000455775.6:c.1181T>G | ENSP00000396415.3:p.Phe394Cys | |
| ENST00000518685.5:c.1007T>G | ENSP00000428952.1:p.Phe336Cys | |
| ENST00000557224.5:c.1007T>G | ENSP00000451208.1:p.Phe336Cys | |
| NM_001114377.1:c.1007T>G | NP_001107849.1:p.Phe336Cys | |
| NM_014009.3:c.1112T>G , LRG_62t1:c.1112T>G | NP_054728.2:p.Phe371Cys | |
| XM_006724533.2:c.1181T>G | XP_006724596.2:p.Phe394Cys | |
| XM_011543915.1:c.1331T>G | XP_011542217.1:p.Phe444Cys | |
| XM_011543916.1:c.1331T>G | XP_011542218.1:p.Phe444Cys | |
| XM_011543917.1:c.1130T>G | XP_011542219.1:p.Phe377Cys | |
| XM_011543918.1:c.1367T>G | XP_011542220.1:p.Phe456Cys | |
| XM_011543919.1:c.1331T>G | XP_011542221.1:p.Phe444Cys | |
| XM_017029567.1:c.1058T>G | XP_016885056.1:p.Phe353Cys | |
| NM_001114377.2:c.1007T>G | NP_001107849.1:p.Phe336Cys | |
| NM_014009.4:c.1112T>G MANE Select | NP_054728.2:p.Phe371Cys |