Linked Data
ClinVar Variation Id:
1970273
ClinVar RCV Id:
RCV002730454
dbSNP Id:
rs751244811
ExAC:
2:128015321 C / G
gnomAD v2:
2-128015321-C-G
gnomAD v3:
2-127257745-C-G
gnomAD v4:
2-127257745-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127257745C>G , CM000664.2:g.127257745C>G | GRCh38 |
| NC_000002.11:g.128015321C>G , CM000664.1:g.128015321C>G | GRCh37 |
| NC_000002.10:g.127731791C>G | NCBI36 |
| NG_007454.1:g.41432G>C , LRG_462:g.41432G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285398.7:c.2218-18G>C MANE Select | ENSP00000285398.2:n.2218-18G>C | |
| ENST00000644317.1:c.*1707-18G>C | ENSP00000494012.1:n.*1707-18G>C | |
| ENST00000645233.1:c.*2430-18G>C | ENSP00000494116.1:n.*2430-18G>C | |
| ENST00000645467.1:c.*990-18G>C | ENSP00000494889.1:n.*990-18G>C | |
| ENST00000645736.1:c.1889-18G>C | ENSP00000494545.1:n.1889-18G>C | |
| ENST00000646042.1:n.2953-18G>C | ||
| ENST00000646654.1:c.*1685-18G>C | ENSP00000494526.1:n.*1685-18G>C | |
| ENST00000647169.1:c.2293-18G>C | ENSP00000495619.1:n.2293-18G>C | |
| ENST00000647496.1:c.396-143G>C | ||
| ENST00000285398.6:c.2218-18G>C | ENSP00000285398.2:n.2218-18G>C | |
| ENST00000426778.5:c.*2199-18G>C | ENSP00000415335.1:n.*2199-18G>C | |
| ENST00000445889.5:c.*2261-18G>C | ENSP00000390888.1:n.*2261-18G>C | |
| ENST00000491292.5:n.3588-18G>C | ||
| NM_000122.1:c.2218-18G>C , LRG_462t1:c.2218-18G>C | NP_000113.1:n.2218-18G>C | |
| NM_001303416.1:c.2026-18G>C | NP_001290345.1:n.2026-18G>C | |
| NM_001303418.1:c.2026-18G>C | NP_001290347.1:n.2026-18G>C | |
| XM_011510794.1:c.2236-18G>C | XP_011509096.1:n.2236-18G>C | |
| XM_011510795.1:c.1780-18G>C | XP_011509097.1:n.1780-18G>C | |
| XM_011510794.2:c.2236-18G>C | XP_011509096.1:n.2236-18G>C | |
| XM_017003583.1:c.1762-18G>C | XP_016859072.1:n.1762-18G>C | |
| NM_000122.2:c.2218-18G>C MANE Select | NP_000113.1:n.2218-18G>C | |
| NM_001303416.2:c.2026-18G>C | NP_001290345.1:n.2026-18G>C | |
| NM_001303418.2:c.2026-18G>C | NP_001290347.1:n.2026-18G>C |