Linked Data
ClinVar Variation Id:
2780598
ClinVar RCV Id:
RCV003755098
dbSNP Id:
rs1650404602
gnomAD v4:
1-36467538-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36467538G>C , CM000663.2:g.36467538G>C | GRCh38 |
| NC_000001.10:g.36933139G>C , CM000663.1:g.36933139G>C | GRCh37 |
| NC_000001.9:g.36705726G>C | NCBI36 |
| NG_016270.1:g.20371C>G , LRG_144:g.20371C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464465.7:c.1856+20C>G | ENSP00000435218.2:n.1856+20C>G | |
| ENST00000487540.7:c.*252+20C>G | ENSP00000514169.2:n.*252+20C>G | |
| ENST00000699089.1:n.2938+20C>G | ||
| ENST00000699090.1:c.1562+20C>G | ENSP00000514168.1:n.1562+20C>G | |
| ENST00000373106.6:c.1958+20C>G MANE Select | ENSP00000362198.2:n.1958+20C>G | |
| ENST00000331941.6:c.1958+20C>G | ENSP00000332180.5:n.1958+20C>G | |
| ENST00000361632.8:c.1958+20C>G | ENSP00000355406.4:n.1958+20C>G | |
| ENST00000373103.5:c.1958+20C>G | ENSP00000362195.1:n.1958+20C>G | |
| ENST00000373104.5:c.1958+20C>G | ENSP00000362196.1:n.1958+20C>G | |
| ENST00000373106.5:c.1958+20C>G | ENSP00000362198.1:n.1958+20C>G | |
| ENST00000464465.6:c.613+20C>G | ||
| ENST00000466138.1:n.252+20C>G | ||
| ENST00000480825.6:n.4806+20C>G | ||
| ENST00000484762.1:n.349+20C>G | ||
| ENST00000487540.6:n.1139+20C>G | ||
| NM_000760.3:c.1958+20C>G | NP_000751.1:n.1958+20C>G | |
| NM_156039.3:c.1958+20C>G , LRG_144t1:c.1958+20C>G | NP_724781.1:n.1958+20C>G | |
| NM_172313.2:c.1958+20C>G | NP_758519.1:n.1958+20C>G | |
| XM_005270493.1:c.1958+20C>G | XP_005270550.1:n.1958+20C>G | |
| XM_011540748.1:c.1958+20C>G | XP_011539050.1:n.1958+20C>G | |
| XM_011540749.1:c.1958+20C>G | XP_011539051.1:n.1958+20C>G | |
| XM_011540750.1:c.1286+20C>G | XP_011539052.1:n.1286+20C>G | |
| XM_011540748.3:c.1958+20C>G | XP_011539050.1:n.1958+20C>G | |
| XM_017000370.1:c.1958+20C>G | XP_016855859.1:n.1958+20C>G | |
| NM_000760.4:c.1958+20C>G MANE Select | NP_000751.1:n.1958+20C>G | |
| NM_172313.3:c.1958+20C>G | NP_758519.1:n.1958+20C>G |