Linked Data
ClinVar Variation Id:
446536
dbSNP Id:
rs1261505725
gnomAD v2:
11-103116105-T-G
gnomAD v3:
11-103245376-T-G
gnomAD v4:
11-103245376-T-G
PubMed:
PMID:29068549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103245376T>G , CM000673.2:g.103245376T>G | GRCh38 |
| NC_000011.9:g.103116105T>G , CM000673.1:g.103116105T>G | GRCh37 |
| NC_000011.8:g.102621315T>G | NCBI36 |
| NG_016423.1:g.140946T>G | |
| NG_016423.2:g.140946T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.10063+2T>G MANE Plus Clinical | ENSP00000497174.1:n.10063+2T>G | |
| ENST00000375735.7:c.10042+2T>G MANE Select | ENSP00000364887.2:n.10042+2T>G | |
| ENST00000650373.1:c.10063+2T>G | ENSP00000497174.1:n.10063+2T>G | |
| ENST00000334267.11:c.2205+110957T>G | ENSP00000334021.7:n.2205+110957T>G | |
| ENST00000375735.6:c.10042+2T>G | ENSP00000364887.2:n.10042+2T>G | |
| ENST00000398093.7:c.10063+2T>G | ENSP00000381167.3:n.10063+2T>G | |
| NM_001080463.1:c.10063+2T>G | NP_001073932.1:n.10063+2T>G | |
| NM_001377.2:c.10042+2T>G | NP_001368.2:n.10042+2T>G | |
| XM_006718903.2:c.10021+2T>G | XP_006718966.1:n.10021+2T>G | |
| XM_017018291.1:c.10042+2T>G | XP_016873780.1:n.10042+2T>G | |
| XM_017018292.1:c.9424+2T>G | XP_016873781.1:n.9424+2T>G | |
| NM_001377.3:c.10042+2T>G MANE Select | NP_001368.2:n.10042+2T>G | |
| NM_001080463.2:c.10063+2T>G MANE Plus Clinical | NP_001073932.1:n.10063+2T>G |