Linked Data
ClinVar Variation Id:
36170
ClinVar RCV Id:
RCV000029833
dbSNP Id:
rs193922258
PubMed:
PMID:18248649
ERepo:
CA213704/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145731C>G , CM000669.2:g.44145731C>G | GRCh38 |
| NC_000007.13:g.44185330C>G , CM000669.1:g.44185330C>G | GRCh37 |
| NC_000007.12:g.44151855C>G | NCBI36 |
| NG_008847.1:g.48693G>C | |
| NG_008847.2:g.57440G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*1018-1G>C | ENSP00000379142.4:n.*1018-1G>C | |
| ENST00000616242.5:c.*140-1G>C | ENSP00000482149.2:n.*140-1G>C | |
| ENST00000683378.1:n.246-1G>C | ||
| ENST00000336642.9:c.54-1G>C | ENSP00000338009.5:n.54-1G>C | |
| ENST00000345378.7:c.1023-1G>C | ENSP00000223366.2:n.1023-1G>C | |
| ENST00000403799.8:c.1020-1G>C MANE Select | ENSP00000384247.3:n.1020-1G>C | |
| ENST00000671824.1:c.1083-1G>C | ENSP00000500264.1:n.1083-1G>C | |
| ENST00000672743.1:n.32-1G>C | ||
| ENST00000673284.1:c.1020-1G>C | ENSP00000499852.1:n.1020-1G>C | |
| ENST00000336642.8:c.72-1G>C | ENSP00000338009.4:n.72-1G>C | |
| ENST00000345378.6:c.1023-1G>C | ENSP00000223366.2:n.1023-1G>C | |
| ENST00000395796.7:c.1017-1G>C | ENSP00000379142.3:n.1017-1G>C | |
| ENST00000403799.7:c.1020-1G>C | ENSP00000384247.3:n.1020-1G>C | |
| ENST00000437084.1:c.969-1G>C | ENSP00000402840.1:n.969-1G>C | |
| ENST00000459642.1:n.399G>C | ||
| ENST00000473353.1:n.318-1G>C | ||
| ENST00000616242.4:c.1017-1G>C | ENSP00000482149.1:n.1017-1G>C | |
| NM_000162.3:c.1020-1G>C | NP_000153.1:n.1020-1G>C | |
| NM_033507.1:c.1023-1G>C | NP_277042.1:n.1023-1G>C | |
| NM_033508.1:c.1017-1G>C | NP_277043.1:n.1017-1G>C | |
| NM_000162.4:c.1020-1G>C | NP_000153.1:n.1020-1G>C | |
| NM_001354800.1:c.1020-1G>C | NP_001341729.1:n.1020-1G>C | |
| NM_001354801.1:c.9-1G>C | NP_001341730.1:n.9-1G>C | |
| NM_001354802.1:c.-121-1G>C | NP_001341731.1:n.-121-1G>C | |
| NM_001354803.1:c.54-1G>C | NP_001341732.1:n.54-1G>C | |
| NM_033507.2:c.1023-1G>C | NP_277042.1:n.1023-1G>C | |
| NM_033508.2:c.1017-1G>C | NP_277043.1:n.1017-1G>C | |
| XM_024446707.1:c.-121-1G>C | XP_024302475.1:n.-121-1G>C | |
| NM_000162.5:c.1020-1G>C MANE Select | NP_000153.1:n.1020-1G>C | |
| NM_033507.3:c.1023-1G>C | NP_277042.1:n.1023-1G>C | |
| NM_033508.3:c.1017-1G>C | NP_277043.1:n.1017-1G>C | |
| NM_001354803.2:c.54-1G>C | NP_001341732.1:n.54-1G>C |