Linked Data
gnomAD v4:
1-115732817-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732817A>C , CM000663.2:g.115732817A>C | GRCh38 |
| NC_000001.10:g.116275438A>C , CM000663.1:g.116275438A>C | GRCh37 |
| NC_000001.9:g.116076961A>C | NCBI36 |
| NG_008802.1:g.40989T>G , LRG_404:g.40989T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.330+84T>G | ENSP00000518226.1:n.330+84T>G | |
| ENST00000261448.6:c.606+84T>G MANE Select | ENSP00000261448.5:n.606+84T>G | |
| ENST00000261448.5:c.606+84T>G | ENSP00000261448.5:n.606+84T>G | |
| ENST00000488931.1:n.27+84T>G | ||
| NM_001232.3:c.606+84T>G , LRG_404t1:c.606+84T>G | NP_001223.2:n.606+84T>G | |
| NM_001232.4:c.606+84T>G MANE Select | NP_001223.2:n.606+84T>G |