Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618349G>C , CM000664.2:g.233618349G>C | GRCh38 |
| NC_000002.11:g.234526995G>C , CM000664.1:g.234526995G>C | GRCh37 |
| NC_000002.10:g.234191734G>C | NCBI36 |
| NG_002601.2:g.33606G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.642G>C MANE Select | ENSP00000362549.4:p.Leu214Phe | |
| ENST00000373450.4:c.642G>C | ENSP00000362549.4:p.Leu214Phe | |
| NM_019076.4:c.642G>C | NP_061949.3:p.Leu214Phe | |
| NM_019076.5:c.642G>C MANE Select | NP_061949.3:p.Leu214Phe |