Linked Data
ClinVar Variation Id:
375657
ClinVar RCV Id:
RCV001692094
dbSNP Id:
rs11676382
ExAC:
2:85777633 C / G
gnomAD v2:
2-85777633-C-G
gnomAD v3:
2-85550510-C-G
gnomAD v4:
2-85550510-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85550510C>G , CM000664.2:g.85550510C>G | GRCh38 |
| NC_000002.11:g.85777633C>G , CM000664.1:g.85777633C>G | GRCh37 |
| NC_000002.10:g.85631144C>G | NCBI36 |
| NG_011811.2:g.16025G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000473665.2:n.6562+45G>C | ||
| ENST00000482662.2:n.4969+45G>C | ||
| ENST00000685865.1:n.3122+45G>C | ||
| ENST00000687250.1:n.2615+45G>C | ||
| ENST00000687995.1:n.2436+45G>C | ||
| ENST00000688205.1:c.*1677+45G>C | ENSP00000509673.1:n.*1677+45G>C | |
| ENST00000688788.1:n.2323+45G>C | ||
| ENST00000689276.1:c.2015+45G>C | ENSP00000510012.1:n.2015+45G>C | |
| ENST00000689576.1:c.*703+45G>C | ENSP00000508712.1:n.*703+45G>C | |
| ENST00000690108.1:c.*1740+45G>C | ENSP00000510617.1:n.*1740+45G>C | |
| ENST00000690468.1:c.*636+45G>C | ENSP00000509078.1:n.*636+45G>C | |
| ENST00000690595.1:c.1409+45G>C | ENSP00000508979.1:n.1409+45G>C | |
| ENST00000691348.1:c.*636+45G>C | ENSP00000509369.1:n.*636+45G>C | |
| ENST00000691410.1:c.*1661+45G>C | ENSP00000508479.1:n.*1661+45G>C | |
| ENST00000693287.1:c.1400+45G>C | ENSP00000510264.1:n.1400+45G>C | |
| ENST00000693354.1:n.768+45G>C | ||
| ENST00000693681.1:c.1397+45G>C | ENSP00000510789.1:n.1397+45G>C | |
| ENST00000233838.9:c.2084+45G>C MANE Select | ENSP00000233838.3:n.2084+45G>C | |
| ENST00000233838.8:c.2084+45G>C | ENSP00000233838.3:n.2084+45G>C | |
| ENST00000430215.7:c.1913+45G>C | ENSP00000408045.3:n.1913+45G>C | |
| ENST00000465637.5:n.179-2506G>C | ||
| NM_000821.5:c.2084+45G>C | NP_000812.2:n.2084+45G>C | |
| NM_000821.6:c.2084+45G>C | NP_000812.2:n.2084+45G>C | |
| NM_001142269.2:c.1913+45G>C | NP_001135741.1:n.1913+45G>C | |
| NM_001142269.3:c.1913+45G>C | NP_001135741.1:n.1913+45G>C | |
| XM_005264259.3:c.2078+45G>C | XP_005264316.1:n.2078+45G>C | |
| XM_011532764.1:c.1262+45G>C | XP_011531066.1:n.1262+45G>C | |
| XM_011532765.1:c.1262+45G>C | XP_011531067.1:n.1262+45G>C | |
| XM_005264259.5:c.2078+45G>C | XP_005264316.1:n.2078+45G>C | |
| XM_011532764.3:c.1262+45G>C | XP_011531066.1:n.1262+45G>C | |
| XM_011532765.3:c.1262+45G>C | XP_011531067.1:n.1262+45G>C | |
| XM_017003803.2:c.1907+45G>C | XP_016859292.1:n.1907+45G>C | |
| XR_001738703.2:n.1997+45G>C | ||
| NM_000821.7:c.2084+45G>C MANE Select | NP_000812.2:n.2084+45G>C | |
| NM_001142269.4:c.1913+45G>C | NP_001135741.1:n.1913+45G>C |