Linked Data
ClinVar Variation Id:
2788991
ClinVar RCV Id:
RCV003674433
dbSNP Id:
rs377099254
ExAC:
2:44104895 C / G
gnomAD v2:
2-44104895-C-G
gnomAD v3:
2-43877756-C-G
gnomAD v4:
2-43877756-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877756C>G , CM000664.2:g.43877756C>G | GRCh38 |
| NC_000002.11:g.44104895C>G , CM000664.1:g.44104895C>G | GRCh37 |
| NC_000002.10:g.43958399C>G | NCBI36 |
| NG_008884.1:g.43793C>G | |
| NG_008884.2:g.50815C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1885-20C>G MANE Select | ENSP00000272286.2:n.1885-20C>G | |
| ENST00000272286.2:c.1885-20C>G | ENSP00000272286.2:n.1885-20C>G | |
| NM_022437.2:c.1885-20C>G | NP_071882.1:n.1885-20C>G | |
| XM_005264483.2:c.1882-20C>G | XP_005264540.1:n.1882-20C>G | |
| XM_011533029.1:c.1897-20C>G | XP_011531331.1:n.1897-20C>G | |
| XM_011533030.1:c.1894-20C>G | XP_011531332.1:n.1894-20C>G | |
| XM_011533031.1:c.1669-20C>G | XP_011531333.1:n.1669-20C>G | |
| XR_939707.1:n.2387-20C>G | ||
| NM_001357321.1:c.1882-20C>G | NP_001344250.1:n.1882-20C>G | |
| XM_011533029.2:c.1897-20C>G | XP_011531331.1:n.1897-20C>G | |
| XM_011533030.2:c.1894-20C>G | XP_011531332.1:n.1894-20C>G | |
| XR_001738891.1:n.2401-20C>G | ||
| XR_939707.2:n.2401-20C>G | ||
| NM_022437.3:c.1885-20C>G MANE Select | NP_071882.1:n.1885-20C>G | |
| NM_001357321.2:c.1882-20C>G | NP_001344250.1:n.1882-20C>G |