Linked Data
gnomAD v4:
1-93997901-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997901A>C , CM000663.2:g.93997901A>C | GRCh38 |
| NC_000001.10:g.94463457A>C , CM000663.1:g.94463457A>C | GRCh37 |
| NC_000001.9:g.94236045A>C | NCBI36 |
| NG_009073.1:g.128249T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6689T>G MANE Select | ENSP00000359245.3:p.Leu2230Arg | |
| ENST00000370225.3:c.6689T>G | ENSP00000359245.3:p.Leu2230Arg | |
| ENST00000536513.5:c.3065T>G | ENSP00000439707.2:p.Leu1022Arg | |
| NM_000350.2:c.6689T>G | NP_000341.2:p.Leu2230Arg | |
| NM_000350.3:c.6689T>G MANE Select | NP_000341.2:p.Leu2230Arg |