Linked Data
dbSNP Id:
rs2275036
ExAC:
10:121140321 C / T
gnomAD v2:
10-121140321-C-T
gnomAD v3:
10-119380809-C-T
gnomAD v4:
10-119380809-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119380809C>T , CM000672.2:g.119380809C>T | GRCh38 |
| NC_000010.10:g.121140321C>T , CM000672.1:g.121140321C>T | GRCh37 |
| NC_000010.9:g.121130311C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392870.3:c.149-6C>T MANE Select | ENSP00000376609.2:n.149-6C>T | |
| ENST00000392870.2:c.149-6C>T | ENSP00000376609.2:n.149-6C>T | |
| NM_005308.2:c.149-6C>T | NP_005299.1:n.149-6C>T | |
| XM_005269707.1:c.149-6C>T | XP_005269764.1:n.149-6C>T | |
| XM_005269708.1:c.53-6C>T | XP_005269765.1:n.53-6C>T | |
| XM_005269707.2:c.149-6C>T | XP_005269764.1:n.149-6C>T | |
| NM_005308.3:c.149-6C>T MANE Select | NP_005299.1:n.149-6C>T |