Linked Data
dbSNP Id:
rs17134585
gnomAD v2:
10-5256272-T-C
gnomAD v3:
10-5214309-T-C
gnomAD v4:
10-5214309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5214309T>C , CM000672.2:g.5214309T>C | GRCh38 |
| NC_000010.10:g.5256272T>C , CM000672.1:g.5256272T>C | GRCh37 |
| NC_000010.9:g.5246272T>C | NCBI36 |
| NG_031872.1:g.22475T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263126.3:c.846+1150T>C MANE Select | ENSP00000263126.1:n.846+1150T>C | |
| ENST00000263126.2:c.846+1150T>C | ENSP00000263126.1:n.846+1150T>C | |
| ENST00000380448.5:c.846+1150T>C | ENSP00000369814.1:n.846+1150T>C | |
| NM_001818.3:c.846+1150T>C | NP_001809.3:n.846+1150T>C | |
| XM_011519303.1:c.891+1150T>C | XP_011517605.1:n.891+1150T>C | |
| NM_001818.4:c.846+1150T>C | NP_001809.3:n.846+1150T>C | |
| NM_001818.5:c.846+1150T>C MANE Select | NP_001809.4:n.846+1150T>C |