Linked Data
ClinVar Variation Id:
12085
ClinVar RCV Id:
RCV000012866
dbSNP Id:
rs121964934
ExAC:
13:113773086 T / G
gnomAD v2:
13-113773086-T-G
gnomAD v4:
13-113118772-T-G
PubMed:
PMID:11091194
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118772T>G , CM000675.2:g.113118772T>G | GRCh38 |
| NC_000013.10:g.113773086T>G , CM000675.1:g.113773086T>G | GRCh37 |
| NC_000013.9:g.112821087T>G | NCBI36 |
| NG_009258.1:g.974T>G , LRG_548:g.974T>G | |
| NG_009262.1:g.17982T>G , LRG_554:g.17982T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.1099T>G MANE Select | ENSP00000329546.4:p.Cys367Gly | |
| ENST00000346342.7:c.1099T>G | ENSP00000329546.3:p.Cys367Gly | |
| ENST00000375581.3:c.1165T>G | ENSP00000364731.3:p.Cys389Gly | |
| ENST00000541084.5:c.913T>G | ENSP00000442051.2:p.Cys305Gly | |
| NM_000131.4:c.1165T>G , LRG_554t1:c.1165T>G | NP_000122.1:p.Cys389Gly | |
| NM_001267554.1:c.913T>G | NP_001254483.1:p.Cys305Gly | |
| NM_019616.3:c.1099T>G , LRG_554t2:c.1099T>G | NP_062562.1:p.Cys367Gly | |
| NR_051961.1:n.1186T>G | ||
| XM_006719963.2:c.958T>G | XP_006720026.1:p.Cys320Gly | |
| XM_011537474.1:c.1207T>G | XP_011535776.1:p.Cys403Gly | |
| XM_011537475.1:c.1021T>G | XP_011535777.1:p.Cys341Gly | |
| XM_011537476.1:c.859T>G | XP_011535778.1:p.Cys287Gly | |
| XM_011537477.1:c.1168T>G | XP_011535779.1:p.Cys390Gly | |
| XM_006719963.3:c.1003T>G | XP_006720026.2:p.Cys335Gly | |
| XM_011537474.2:c.1252T>G | XP_011535776.2:p.Cys418Gly | |
| XM_011537475.2:c.1066T>G | XP_011535777.2:p.Cys356Gly | |
| XM_011537476.2:c.859T>G | XP_011535778.1:p.Cys287Gly | |
| NM_019616.4:c.1099T>G MANE Select | NP_062562.1:p.Cys367Gly | |
| NR_051961.2:n.1183T>G | ||
| NM_001267554.2:c.913T>G | NP_001254483.1:p.Cys305Gly |