Linked Data
dbSNP Id:
rs11061937
gnomAD v2:
12-1816613-T-C
gnomAD v3:
12-1707447-T-C
gnomAD v4:
12-1707447-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1707447T>C , CM000674.2:g.1707447T>C | GRCh38 |
| NC_000012.11:g.1816613T>C , CM000674.1:g.1816613T>C | GRCh37 |
| NC_000012.10:g.1686874T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357103.5:c.-87+16256T>C MANE Select | ENSP00000349616.4:n.-87+16256T>C | |
| ENST00000357103.4:c.-87+16256T>C | ENSP00000349616.4:n.-87+16256T>C | |
| ENST00000537545.1:n.144+18730T>C | ||
| ENST00000540974.1:n.148+4465T>C | ||
| NM_024551.2:c.-87+16256T>C | NP_078827.2:n.-87+16256T>C | |
| XM_005253789.1:c.-87+16234T>C | XP_005253846.1:n.-87+16234T>C | |
| XM_006719018.1:c.-87+4465T>C | XP_006719081.1:n.-87+4465T>C | |
| XM_011521024.1:c.-87+4465T>C | XP_011519326.1:n.-87+4465T>C | |
| XM_011521025.1:c.-87+16234T>C | XP_011519327.1:n.-87+16234T>C | |
| XM_005253789.2:c.-87+16234T>C | XP_005253846.1:n.-87+16234T>C | |
| XM_006719018.2:c.-87+4465T>C | XP_006719081.1:n.-87+4465T>C | |
| XM_011521024.2:c.-87+4465T>C | XP_011519326.1:n.-87+4465T>C | |
| NM_024551.3:c.-87+16256T>C MANE Select | NP_078827.2:n.-87+16256T>C | |
| NM_001375363.1:c.-87+16256T>C | NP_001362292.1:n.-87+16256T>C | |
| NM_001375364.1:c.-249+16234T>C | NP_001362293.1:n.-249+16234T>C | |
| NM_001375365.1:c.-87+16234T>C | NP_001362294.1:n.-87+16234T>C |