Linked Data
dbSNP Id:
rs2252865
gnomAD v2:
1-8422676-T-C
gnomAD v3:
1-8362616-T-C
gnomAD v4:
1-8362616-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.8362616T>C , CM000663.2:g.8362616T>C | GRCh38 |
| NC_000001.10:g.8422676T>C , CM000663.1:g.8422676T>C | GRCh37 |
| NC_000001.9:g.8345263T>C | NCBI36 |
| NG_047035.1:g.460076A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465125.2:c.240+67A>G | ENSP00000515651.1:n.240+67A>G | |
| ENST00000400908.7:c.1902+67A>G MANE Select | ENSP00000383700.2:n.1902+67A>G | |
| ENST00000656437.1:c.1902+67A>G | ENSP00000499322.1:n.1902+67A>G | |
| ENST00000337907.7:c.1902+67A>G | ENSP00000338629.3:n.1902+67A>G | |
| ENST00000377464.5:c.1098+67A>G | ENSP00000366684.1:n.1098+67A>G | |
| ENST00000400907.6:c.1540+2130A>G | ENSP00000383699.2:n.1540+2130A>G | |
| ENST00000400908.6:c.1902+67A>G | ENSP00000383700.2:n.1902+67A>G | |
| ENST00000476556.5:c.240+67A>G | ENSP00000422246.1:n.240+67A>G | |
| ENST00000505225.1:c.162+67A>G | ENSP00000423451.1:n.162+67A>G | |
| NM_001042681.1:c.1902+67A>G | NP_001036146.1:n.1902+67A>G | |
| NM_001042682.1:c.240+67A>G | NP_001036147.1:n.240+67A>G | |
| NM_012102.3:c.1902+67A>G | NP_036234.3:n.1902+67A>G | |
| XM_005263464.1:c.1902+67A>G | XP_005263521.1:n.1902+67A>G | |
| XM_005263466.1:c.1098+67A>G | XP_005263523.1:n.1098+67A>G | |
| XM_006710653.1:c.1902+67A>G | XP_006710716.1:n.1902+67A>G | |
| XM_011541510.1:c.1776+67A>G | XP_011539812.1:n.1776+67A>G | |
| XM_011541511.1:c.1902+67A>G | XP_011539813.1:n.1902+67A>G | |
| XM_005263464.2:c.1902+67A>G | XP_005263521.1:n.1902+67A>G | |
| XM_011541510.2:c.1776+67A>G | XP_011539812.1:n.1776+67A>G | |
| XM_011541511.2:c.1902+67A>G | XP_011539813.1:n.1902+67A>G | |
| XM_017001358.1:c.1902+67A>G | XP_016856847.1:n.1902+67A>G | |
| XM_017001359.1:c.1902+67A>G | XP_016856848.1:n.1902+67A>G | |
| NM_001042681.2:c.1902+67A>G MANE Select | NP_001036146.1:n.1902+67A>G | |
| NM_001042682.2:c.240+67A>G | NP_001036147.1:n.240+67A>G | |
| NM_012102.4:c.1902+67A>G | NP_036234.3:n.1902+67A>G |