Linked Data
gnomAD v4:
5-136056912-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136056912A>G , CM000667.2:g.136056912A>G | GRCh38 |
| NC_000005.9:g.135392601A>G , CM000667.1:g.135392601A>G | GRCh37 |
| NC_000005.8:g.135420500A>G | NCBI36 |
| NG_012646.1:g.33018A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1678+117A>G MANE Select | ENSP00000416330.2:n.1678+117A>G | |
| ENST00000442011.6:c.1678+117A>G | ENSP00000416330.2:n.1678+117A>G | |
| ENST00000506699.5:n.2195+117A>G | ||
| ENST00000507018.5:c.1656+117A>G | ||
| ENST00000509485.5:c.675+117A>G | ||
| ENST00000514242.5:n.449+117A>G | ||
| ENST00000514554.5:c.830+117A>G | ||
| NM_000358.2:c.1678+117A>G | NP_000349.1:n.1678+117A>G | |
| NM_000358.3:c.1678+117A>G MANE Select | NP_000349.1:n.1678+117A>G |