Linked Data
ClinVar Variation Id:
8793
ClinVar RCV Id:
RCV002051620
dbSNP Id:
rs137852758
PubMed:
PMID:11810295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23939322C>T , CM000680.2:g.23939322C>T | GRCh38 |
| NC_000018.9:g.21519286C>T , CM000680.1:g.21519286C>T | GRCh37 |
| NC_000018.8:g.19773284C>T | NCBI36 |
| NG_007853.2:g.254725C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.4135C>T MANE Plus Clinical | ENSP00000269217.5:p.Gln1379Ter | |
| ENST00000313654.14:c.8962C>T MANE Select | ENSP00000324532.8:p.Gln2988Ter | |
| ENST00000649721.1:c.5557C>T | ENSP00000497885.1:p.Gln1853Ter | |
| ENST00000269217.10:c.4135C>T | ENSP00000269217.5:p.Gln1379Ter | |
| ENST00000313654.13:c.8962C>T | ENSP00000324532.8:p.Gln2988Ter | |
| ENST00000399516.7:c.8794C>T | ENSP00000382432.2:p.Gln2932Ter | |
| ENST00000587184.5:c.3967C>T | ENSP00000466557.1:p.Gln1323Ter | |
| ENST00000588770.5:n.3540C>T | ||
| NM_000227.4:c.4135C>T | NP_000218.3:p.Gln1379Ter | |
| NM_001127717.2:c.8794C>T | NP_001121189.2:p.Gln2932Ter | |
| NM_001127718.2:c.3967C>T | NP_001121190.2:p.Gln1323Ter | |
| NM_198129.2:c.8962C>T | NP_937762.2:p.Gln2988Ter | |
| XM_011525978.1:c.8989C>T | XP_011524280.1:p.Gln2997Ter | |
| XM_011525979.1:c.8980C>T | XP_011524281.1:p.Gln2994Ter | |
| XM_011525980.1:c.8971C>T | XP_011524282.1:p.Gln2991Ter | |
| XM_011525981.1:c.8857C>T | XP_011524283.1:p.Gln2953Ter | |
| XM_011525982.1:c.8692C>T | XP_011524284.1:p.Gln2898Ter | |
| XM_011525978.2:c.8989C>T | XP_011524280.1:p.Gln2997Ter | |
| XM_011525979.2:c.8980C>T | XP_011524281.1:p.Gln2994Ter | |
| XM_011525980.2:c.8971C>T | XP_011524282.1:p.Gln2991Ter | |
| XM_011525981.2:c.8857C>T | XP_011524283.1:p.Gln2953Ter | |
| XM_011525982.2:c.8692C>T | XP_011524284.1:p.Gln2898Ter | |
| XM_017025743.1:c.6841C>T | XP_016881232.1:p.Gln2281Ter | |
| XM_017025744.1:c.4531C>T | XP_016881233.1:p.Gln1511Ter | |
| XR_001753199.1:n.9230C>T | ||
| NM_000227.5:c.4135C>T | NP_000218.3:p.Gln1379Ter | |
| NM_001127717.3:c.8794C>T | NP_001121189.2:p.Gln2932Ter | |
| NM_001127718.3:c.3967C>T | NP_001121190.2:p.Gln1323Ter | |
| NM_198129.3:c.8962C>T | NP_937762.2:p.Gln2988Ter | |
| NM_000227.6:c.4135C>T MANE Plus Clinical | NP_000218.3:p.Gln1379Ter | |
| NM_001127717.4:c.8794C>T | NP_001121189.2:p.Gln2932Ter | |
| NM_001127718.4:c.3967C>T | NP_001121190.2:p.Gln1323Ter | |
| NM_198129.4:c.8962C>T MANE Select | NP_937762.2:p.Gln2988Ter |