Linked Data
gnomAD v4:
2-218814141-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814141T>C , CM000664.2:g.218814141T>C | GRCh38 |
| NC_000002.11:g.219678864T>C , CM000664.1:g.219678864T>C | GRCh37 |
| NC_000002.10:g.219387108T>C | NCBI36 |
| NG_007959.1:g.37393T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1138T>C MANE Select | ENSP00000258415.4:p.Phe380Leu | |
| ENST00000258415.8:c.1138T>C | ENSP00000258415.4:p.Phe380Leu | |
| ENST00000494263.5:n.1572T>C | ||
| NM_000784.3:c.1138T>C | NP_000775.1:p.Phe380Leu | |
| XM_017003488.2:c.718T>C | XP_016858977.1:p.Phe240Leu | |
| NM_000784.4:c.1138T>C MANE Select | NP_000775.1:p.Phe380Leu |