MyVariant.info:
GRCh38
chr8:g.30405270T>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.30405270T>C , CM000670.2:g.30405270T>C | GRCh38 |
| NG_029534.1:g.25843T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397323.9:c.66+20112T>C MANE Select | ENSP00000380486.4:n.66+20112T>C | |
| ENST00000287771.9:c.66+20112T>C | ENSP00000287771.5:n.66+20112T>C | |
| ENST00000320203.8:c.66+20112T>C | ENSP00000318102.4:n.66+20112T>C | |
| ENST00000339877.8:c.66+20112T>C | ENSP00000340176.4:n.66+20112T>C | |
| ENST00000397323.8:c.66+20112T>C | ENSP00000380486.4:n.66+20112T>C | |
| ENST00000517860.5:c.66+20112T>C | ENSP00000428675.1:n.66+20112T>C | |
| ENST00000519647.5:c.-247+17946T>C | ENSP00000430342.1:n.-247+17946T>C | |
| ENST00000520161.5:c.-247+19880T>C | ENSP00000427896.1:n.-247+19880T>C | |
| ENST00000521816.1:n.60+7284T>C | ||
| ENST00000523115.5:c.-247+18152T>C | ENSP00000429086.1:n.-247+18152T>C | |
| NM_001008710.2:c.66+20112T>C | NP_001008710.1:n.66+20112T>C | |
| NM_001008711.2:c.66+20112T>C | NP_001008711.1:n.66+20112T>C | |
| NM_001008712.2:c.66+20112T>C | NP_001008712.1:n.66+20112T>C | |
| NM_006867.3:c.66+20112T>C | NP_006858.1:n.66+20112T>C | |
| XM_006716277.2:c.66+20112T>C | XP_006716340.1:n.66+20112T>C | |
| XM_011544372.1:c.66+20112T>C | XP_011542674.1:n.66+20112T>C | |
| XM_011544373.1:c.66+20112T>C | XP_011542675.1:n.66+20112T>C | |
| XM_011544374.1:c.66+20112T>C | XP_011542676.1:n.66+20112T>C | |
| XM_011544375.1:c.66+20112T>C | XP_011542677.1:n.66+20112T>C | |
| XM_011544376.1:c.66+20112T>C | XP_011542678.1:n.66+20112T>C | |
| XM_011544377.1:c.66+20112T>C | XP_011542679.1:n.66+20112T>C | |
| XM_011544378.1:c.66+20112T>C | XP_011542680.1:n.66+20112T>C | |
| XM_011544379.1:c.66+20112T>C | XP_011542681.1:n.66+20112T>C | |
| XM_011544380.1:c.66+20112T>C | XP_011542682.1:n.66+20112T>C | |
| XM_011544381.1:c.66+20112T>C | XP_011542683.1:n.66+20112T>C | |
| XM_011544382.1:c.66+20112T>C | XP_011542684.1:n.66+20112T>C | |
| XM_017012980.2:c.66+20112T>C | XP_016868469.1:n.66+20112T>C | |
| XM_017012981.2:c.66+20112T>C | XP_016868470.1:n.66+20112T>C | |
| XM_017012982.2:c.66+20112T>C | XP_016868471.1:n.66+20112T>C | |
| XM_017012984.2:c.66+20112T>C | XP_016868473.1:n.66+20112T>C | |
| XM_017012986.2:c.66+20112T>C | XP_016868475.1:n.66+20112T>C | |
| XM_017012987.2:c.66+20112T>C | XP_016868476.1:n.66+20112T>C | |
| XM_017012988.2:c.66+20112T>C | XP_016868477.1:n.66+20112T>C | |
| XM_017012989.2:c.66+20112T>C | XP_016868478.1:n.66+20112T>C | |
| XM_017012990.2:c.66+20112T>C | XP_016868479.1:n.66+20112T>C | |
| XM_017012992.2:c.66+20112T>C | XP_016868481.1:n.66+20112T>C | |
| XM_024447054.1:c.66+20112T>C | XP_024302822.1:n.66+20112T>C | |
| XR_001745460.2:n.618+20112T>C | ||
| XR_001745461.2:n.618+20112T>C | ||
| XR_001745462.2:n.618+20112T>C | ||
| XR_001745463.2:n.618+20112T>C | ||
| NM_001008710.3:c.66+20112T>C MANE Select | NP_001008710.1:n.66+20112T>C | |
| NM_001008711.3:c.66+20112T>C | NP_001008711.1:n.66+20112T>C | |
| NM_006867.4:c.66+20112T>C | NP_006858.1:n.66+20112T>C | |
| NM_001008712.3:c.66+20112T>C | NP_001008712.1:n.66+20112T>C |