Linked Data
ClinVar Variation Id:
254148
ClinVar RCV Id:
RCV000240622
dbSNP Id:
rs886037897
PubMed:
PMID:26487268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238352956T>G , CM000664.2:g.238352956T>G | GRCh38 |
| NC_000002.11:g.239261597T>G , CM000664.1:g.239261597T>G | GRCh37 |
| NC_000002.10:g.238926336T>G | NCBI36 |
| NG_053055.1:g.37468T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1575+6T>G MANE Select | ENSP00000362424.4:n.1575+6T>G | |
| ENST00000373327.4:c.1575+6T>G | ENSP00000362424.4:n.1575+6T>G | |
| ENST00000391993.7:c.1377+6T>G | ENSP00000375851.3:n.1377+6T>G | |
| ENST00000462122.1:n.586+6T>G | ||
| NM_001139490.1:c.1377+6T>G | NP_001132962.1:n.1377+6T>G | |
| NM_015650.3:c.1575+6T>G | NP_056465.2:n.1575+6T>G | |
| XM_006712414.1:c.1374+6T>G | XP_006712477.1:n.1374+6T>G | |
| XM_011510944.1:c.1677+6T>G | XP_011509246.1:n.1677+6T>G | |
| XM_011510945.1:c.1638+6T>G | XP_011509247.1:n.1638+6T>G | |
| XM_011510946.1:c.1605+6T>G | XP_011509248.1:n.1605+6T>G | |
| XM_011510947.1:c.1545+6T>G | XP_011509249.1:n.1545+6T>G | |
| XM_011510948.1:c.1479+6T>G | XP_011509250.1:n.1479+6T>G | |
| XM_011510950.1:c.543+6T>G | XP_011509252.1:n.543+6T>G | |
| XR_922902.1:n.1788+6T>G | ||
| XM_006712414.2:c.1374+6T>G | XP_006712477.1:n.1374+6T>G | |
| XM_011510944.2:c.1677+6T>G | XP_011509246.1:n.1677+6T>G | |
| XM_011510945.2:c.1638+6T>G | XP_011509247.1:n.1638+6T>G | |
| XM_011510946.2:c.1605+6T>G | XP_011509248.1:n.1605+6T>G | |
| XM_011510947.2:c.1545+6T>G | XP_011509249.1:n.1545+6T>G | |
| XM_011510948.2:c.1479+6T>G | XP_011509250.1:n.1479+6T>G | |
| XM_011510950.2:c.543+6T>G | XP_011509252.1:n.543+6T>G | |
| XM_017003789.1:c.1674+6T>G | XP_016859278.1:n.1674+6T>G | |
| XR_001738696.1:n.1403+6T>G | ||
| XR_001738697.1:n.1400+6T>G | ||
| XR_922902.2:n.1851+6T>G | ||
| NM_015650.4:c.1575+6T>G MANE Select | NP_056465.2:n.1575+6T>G |