Linked Data
dbSNP Id:
rs117147010
gnomAD v2:
16-12596935-C-T
gnomAD v3:
16-12503078-C-T
gnomAD v4:
16-12503078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.12503078C>T , CM000678.2:g.12503078C>T | GRCh38 |
| NC_000016.9:g.12596935C>T , CM000678.1:g.12596935C>T | GRCh37 |
| NC_000016.8:g.12504436C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000566228.6:c.2179-21624C>T MANE Select | ENSP00000456480.1:n.2179-21624C>T | |
| ENST00000564791.5:c.646-21624C>T | ENSP00000457017.1:n.646-21624C>T | |
| ENST00000566228.5:c.2179-21624C>T | ENSP00000456480.1:n.2179-21624C>T | |
| NM_032167.4:c.2179-21624C>T | NP_115543.3:n.2179-21624C>T | |
| XM_005255682.2:c.2209-21624C>T | XP_005255739.1:n.2209-21624C>T | |
| XM_011522737.1:c.2209-12431C>T | XP_011521039.1:n.2209-12431C>T | |
| XM_011522738.1:c.2209-12431C>T | XP_011521040.1:n.2209-12431C>T | |
| XM_011522739.1:c.2209-12431C>T | XP_011521041.1:n.2209-12431C>T | |
| XM_011522740.1:c.2179-12431C>T | XP_011521042.1:n.2179-12431C>T | |
| XM_011522741.1:c.2209-12431C>T | XP_011521043.1:n.2209-12431C>T | |
| XM_011522742.1:c.2209-21624C>T | XP_011521044.1:n.2209-21624C>T | |
| XM_011522743.1:c.2209-12431C>T | XP_011521045.1:n.2209-12431C>T | |
| XM_011522744.1:c.2209-21624C>T | XP_011521046.1:n.2209-21624C>T | |
| XM_011522745.1:c.1723-12431C>T | XP_011521047.1:n.1723-12431C>T | |
| XM_011522746.1:c.799-12431C>T | XP_011521048.1:n.799-12431C>T | |
| XM_011522747.1:c.799-12431C>T | XP_011521049.1:n.799-12431C>T | |
| XM_005255682.4:c.2209-21624C>T | XP_005255739.1:n.2209-21624C>T | |
| XM_011522738.3:c.2209-12431C>T | XP_011521040.1:n.2209-12431C>T | |
| XM_011522741.3:c.2209-12431C>T | XP_011521043.1:n.2209-12431C>T | |
| XM_011522743.3:c.2209-12431C>T | XP_011521045.1:n.2209-12431C>T | |
| XM_011522744.3:c.2209-21624C>T | XP_011521046.1:n.2209-21624C>T | |
| XM_017023871.2:c.2209-12431C>T | XP_016879360.1:n.2209-12431C>T | |
| XM_017023872.1:c.2179-12431C>T | XP_016879361.1:n.2179-12431C>T | |
| XM_017023873.2:c.2209-21624C>T | XP_016879362.1:n.2209-21624C>T | |
| XM_017023874.1:c.2179-21624C>T | XP_016879363.1:n.2179-21624C>T | |
| XM_017023878.2:c.799-12431C>T | XP_016879367.1:n.799-12431C>T | |
| XM_024450491.1:c.1723-12431C>T | XP_024306259.1:n.1723-12431C>T | |
| XR_001752024.2:n.2428-12431C>T | ||
| NM_032167.5:c.2179-21624C>T MANE Select | NP_115543.3:n.2179-21624C>T |