Linked Data
ClinVar Variation Id:
6473
ClinVar RCV Id:
RCV000006846
dbSNP Id:
rs121908858
PubMed:
PMID:11274232
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71339333C>T , CM000666.2:g.71339333C>T | GRCh38 |
| NC_000004.11:g.72205050C>T , CM000666.1:g.72205050C>T | GRCh37 |
| NC_000004.10:g.72423914C>T | NCBI36 |
| NG_012653.1:g.157048C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698522.1:c.254-37C>T | ENSP00000513771.1:n.254-37C>T | |
| ENST00000264485.11:c.254-37C>T MANE Select | ENSP00000264485.5:n.254-37C>T | |
| ENST00000340595.4:c.85C>T MANE Plus Clinical | ENSP00000344272.3:p.Gln29Ter | |
| ENST00000638464.1:c.347-37C>T | ENSP00000492496.1:n.347-37C>T | |
| ENST00000639096.1:c.359-37C>T | ENSP00000491107.1:n.359-37C>T | |
| ENST00000649996.1:c.254-37C>T | ENSP00000497468.1:n.254-37C>T | |
| ENST00000264485.9:c.254-37C>T | ENSP00000264485.5:n.254-37C>T | |
| ENST00000340595.3:c.85C>T | ENSP00000344272.3:p.Gln29Ter | |
| ENST00000351898.10:c.254-37C>T | ENSP00000307349.7:n.254-37C>T | |
| ENST00000425175.5:c.254-37C>T | ENSP00000393557.1:n.254-37C>T | |
| ENST00000512686.5:c.85C>T | ENSP00000422400.1:p.Gln29Ter | |
| ENST00000514331.1:n.183-37C>T | ||
| NM_001098484.2:c.254-37C>T | NP_001091954.1:n.254-37C>T | |
| NM_001134742.1:c.254-37C>T | NP_001128214.1:n.254-37C>T | |
| NM_003759.3:c.85C>T | NP_003750.1:p.Gln29Ter | |
| XM_017008792.1:c.29-37C>T | XP_016864281.1:n.29-37C>T | |
| XM_024454267.1:c.347-37C>T | XP_024310035.1:n.347-37C>T | |
| XM_024454268.1:c.269-37C>T | XP_024310036.1:n.269-37C>T | |
| XM_024454269.1:c.269-37C>T | XP_024310037.1:n.269-37C>T | |
| XM_024454270.1:c.254-37C>T | XP_024310038.1:n.254-37C>T | |
| XM_024454271.1:c.254-37C>T | XP_024310039.1:n.254-37C>T | |
| XM_024454272.1:c.254-37C>T | XP_024310040.1:n.254-37C>T | |
| NM_001098484.3:c.254-37C>T MANE Select | NP_001091954.1:n.254-37C>T | |
| NM_001134742.2:c.254-37C>T | NP_001128214.1:n.254-37C>T | |
| NM_003759.4:c.85C>T MANE Plus Clinical | NP_003750.1:p.Gln29Ter |