Linked Data
dbSNP Id:
rs45607133
gnomAD v2:
5-135381681-A-T
gnomAD v3:
5-136045992-A-T
gnomAD v4:
5-136045992-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136045992A>T , CM000667.2:g.136045992A>T | GRCh38 |
| NC_000005.9:g.135381681A>T , CM000667.1:g.135381681A>T | GRCh37 |
| NC_000005.8:g.135409580A>T | NCBI36 |
| NG_012646.1:g.22098A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.299-343A>T MANE Select | ENSP00000416330.2:n.299-343A>T | |
| ENST00000442011.6:c.299-343A>T | ENSP00000416330.2:n.299-343A>T | |
| ENST00000504185.5:n.456-343A>T | ||
| ENST00000506699.5:n.364-343A>T | ||
| ENST00000507018.5:c.216-343A>T | ||
| ENST00000515433.1:n.248A>T | ||
| NM_000358.2:c.299-343A>T | NP_000349.1:n.299-343A>T | |
| NM_000358.3:c.299-343A>T MANE Select | NP_000349.1:n.299-343A>T |