Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18672057C>G , CM000685.2:g.18672057C>G | GRCh38 |
| NC_000023.10:g.18690177C>G , CM000685.1:g.18690177C>G | GRCh37 |
| NC_000023.9:g.18600098C>G | NCBI36 |
| NG_008659.3:g.10392G>C , LRG_702:g.10392G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.12G>C MANE Select | ENSP00000369320.3:p.Lys4Asn | |
| ENST00000379984.3:c.12G>C | ENSP00000369320.3:p.Lys4Asn | |
| NM_000330.3:c.12G>C , LRG_702t1:c.12G>C | NP_000321.1:p.Lys4Asn | |
| NM_000330.4:c.12G>C MANE Select | NP_000321.1:p.Lys4Asn |