Linked Data
dbSNP Id:
rs1255512060
gnomAD v2:
5-135381675-C-T
gnomAD v3:
5-136045986-C-T
gnomAD v4:
5-136045986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136045986C>T , CM000667.2:g.136045986C>T | GRCh38 |
| NC_000005.9:g.135381675C>T , CM000667.1:g.135381675C>T | GRCh37 |
| NC_000005.8:g.135409574C>T | NCBI36 |
| NG_012646.1:g.22092C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.299-349C>T MANE Select | ENSP00000416330.2:n.299-349C>T | |
| ENST00000442011.6:c.299-349C>T | ENSP00000416330.2:n.299-349C>T | |
| ENST00000504185.5:n.456-349C>T | ||
| ENST00000506699.5:n.364-349C>T | ||
| ENST00000507018.5:c.216-349C>T | ||
| ENST00000515433.1:n.242C>T | ||
| NM_000358.2:c.299-349C>T | NP_000349.1:n.299-349C>T | |
| NM_000358.3:c.299-349C>T MANE Select | NP_000349.1:n.299-349C>T |