Linked Data
gnomAD v4:
5-136046215-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046215C>A , CM000667.2:g.136046215C>A | GRCh38 |
| NC_000005.9:g.135381904C>A , CM000667.1:g.135381904C>A | GRCh37 |
| NC_000005.8:g.135409803C>A | NCBI36 |
| NG_012646.1:g.22321C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.299-120C>A MANE Select | ENSP00000416330.2:n.299-120C>A | |
| ENST00000442011.6:c.299-120C>A | ENSP00000416330.2:n.299-120C>A | |
| ENST00000504185.5:n.456-120C>A | ||
| ENST00000506699.5:n.364-120C>A | ||
| ENST00000507018.5:c.216-120C>A | ||
| ENST00000515433.1:n.471C>A | ||
| NM_000358.2:c.299-120C>A | NP_000349.1:n.299-120C>A | |
| NM_000358.3:c.299-120C>A MANE Select | NP_000349.1:n.299-120C>A |