Linked Data
ClinVar Variation Id:
5665
ClinVar RCV Id:
RCV000006019
dbSNP Id:
rs587777754
PubMed:
PMID:10980739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32147259G>C , CM000664.2:g.32147259G>C | GRCh38 |
| NC_000002.11:g.32372328G>C , CM000664.1:g.32372328G>C | GRCh37 |
| NC_000002.10:g.32225832G>C | NCBI36 |
| NG_008730.1:g.88649G>C , LRG_714:g.88649G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1388+1G>C | ENSP00000515816.1:n.*1388+1G>C | |
| ENST00000315285.9:c.1728+1G>C MANE Select | ENSP00000320885.3:n.1728+1G>C | |
| ENST00000621856.2:c.1725+1G>C | ENSP00000482496.2:n.1725+1G>C | |
| ENST00000642281.1:c.1465+1G>C | ||
| ENST00000642455.1:c.1629+1G>C | ENSP00000493827.1:n.1629+1G>C | |
| ENST00000642751.1:c.1431+1G>C | ||
| ENST00000642999.1:c.1470+1G>C | ENSP00000496589.1:n.1470+1G>C | |
| ENST00000643334.1:c.1308+1G>C | ||
| ENST00000644408.1:c.1627+1G>C | ||
| ENST00000644954.1:c.1374+1G>C | ENSP00000494312.1:n.1374+1G>C | |
| ENST00000645159.1:n.2465+1G>C | ||
| ENST00000645671.1:c.1107+1G>C | ||
| ENST00000645730.1:c.907+1G>C | ||
| ENST00000646082.1:c.1374+1G>C | ||
| ENST00000646571.1:c.1632+1G>C | ENSP00000495015.1:n.1632+1G>C | |
| ENST00000647007.1:n.1420+1G>C | ||
| ENST00000647133.1:c.1228+1G>C | ||
| ENST00000315285.7:c.1728+1G>C | ENSP00000320885.3:n.1728+1G>C | |
| ENST00000345662.5:c.1632+1G>C | ENSP00000340817.1:n.1632+1G>C | |
| ENST00000615843.4:c.1728+1G>C | ENSP00000480893.1:n.1728+1G>C | |
| ENST00000621856.1:c.1470+1G>C | ENSP00000482496.1:n.1470+1G>C | |
| NM_014946.3:c.1728+1G>C , LRG_714t1:c.1728+1G>C | NP_055761.2:n.1728+1G>C | |
| NM_199436.1:c.1632+1G>C | NP_955468.1:n.1632+1G>C | |
| XM_005264516.3:c.1725+1G>C | XP_005264573.1:n.1725+1G>C | |
| XM_011533067.1:c.*1+1G>C | XP_011531369.1:n.*1+1G>C | |
| NM_001363823.1:c.1725+1G>C | NP_001350752.1:n.1725+1G>C | |
| NM_001363875.1:c.1629+1G>C | NP_001350804.1:n.1629+1G>C | |
| XM_005264516.5:c.1725+1G>C | XP_005264573.1:n.1725+1G>C | |
| XM_011533067.2:c.*1+1G>C | XP_011531369.1:n.*1+1G>C | |
| XM_017004778.2:c.*1+1G>C | XP_016860267.1:n.*1+1G>C | |
| NM_001363823.2:c.1725+1G>C | NP_001350752.1:n.1725+1G>C | |
| NM_001363875.2:c.1629+1G>C | NP_001350804.1:n.1629+1G>C | |
| NM_001377959.1:c.*1+1G>C | NP_001364888.1:n.*1+1G>C | |
| NM_014946.4:c.1728+1G>C MANE Select | NP_055761.2:n.1728+1G>C | |
| NM_199436.2:c.1632+1G>C | NP_955468.1:n.1632+1G>C |