Linked Data
dbSNP Id:
rs1007392
gnomAD v2:
11-14774591-A-G
gnomAD v3:
11-14753045-A-G
gnomAD v4:
11-14753045-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14753045A>G , CM000673.2:g.14753045A>G | GRCh38 |
| NC_000011.9:g.14774591A>G , CM000673.1:g.14774591A>G | GRCh37 |
| NC_000011.8:g.14731167A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282096.9:c.979-18892A>G MANE Select | ENSP00000282096.4:n.979-18892A>G | |
| ENST00000282096.8:c.979-18892A>G | ENSP00000282096.4:n.979-18892A>G | |
| ENST00000455098.2:c.979-18892A>G | ENSP00000388644.2:n.979-18892A>G | |
| ENST00000534317.1:n.795-18892A>G | ||
| NM_000922.3:c.979-18892A>G | NP_000913.2:n.979-18892A>G | |
| XM_006718249.2:c.979-18892A>G | XP_006718312.1:n.979-18892A>G | |
| XM_011520183.1:c.979-18892A>G | XP_011518485.1:n.979-18892A>G | |
| NM_001363569.1:c.979-18892A>G | NP_001350498.1:n.979-18892A>G | |
| NM_001363570.1:c.979-18892A>G | NP_001350499.1:n.979-18892A>G | |
| XM_006718249.3:c.979-18892A>G | XP_006718312.1:n.979-18892A>G | |
| XM_017017911.2:c.979-18892A>G | XP_016873400.1:n.979-18892A>G | |
| XM_017017912.1:c.979-18892A>G | XP_016873401.1:n.979-18892A>G | |
| XR_001747903.2:n.1364-18892A>G | ||
| NM_000922.4:c.979-18892A>G MANE Select | NP_000913.2:n.979-18892A>G | |
| NM_001363569.2:c.979-18892A>G | NP_001350498.1:n.979-18892A>G | |
| NM_001363570.2:c.979-18892A>G | NP_001350499.1:n.979-18892A>G |