MyVariant.info:
GRCh38
chr19:g.54174170G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54174170G>C , CM000681.2:g.54174170G>C | GRCh38 |
| NC_000019.8:g.59369676G>C | NCBI36 |
| NG_033045.2:g.20706C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245615.6:c.1293C>G MANE Select | ENSP00000245615.1:p.Phe431Leu | |
| ENST00000245615.5:c.1293C>G | ENSP00000245615.1:p.Phe431Leu | |
| ENST00000338624.10:c.1074C>G | ENSP00000344377.5:p.Phe358Leu | |
| ENST00000431666.6:c.1074C>G | ENSP00000410503.2:p.Phe358Leu | |
| ENST00000437868.5:c.*953C>G | ENSP00000404915.1:n.*953C>G | |
| ENST00000449249.5:c.611C>G | ENSP00000406794.1:n.611C>G | |
| ENST00000494142.1:n.2288C>G | ||
| NM_001146056.2:c.1074C>G | NP_001139528.1:p.Phe358Leu | |
| NM_001146083.2:c.1074C>G | NP_001139555.1:p.Phe358Leu | |
| NM_024298.4:c.1293C>G | NP_077274.3:p.Phe431Leu | |
| XM_011527299.1:c.1293C>G | XP_011525601.1:p.Phe431Leu | |
| XM_011527300.1:c.1293C>G | XP_011525602.1:p.Phe431Leu | |
| XM_011527299.3:c.1293C>G | XP_011525601.1:p.Phe431Leu | |
| XM_011527300.2:c.1293C>G | XP_011525602.1:p.Phe431Leu | |
| NM_024298.5:c.1293C>G MANE Select | NP_077274.3:p.Phe431Leu | |
| NM_001146056.3:c.1074C>G | NP_001139528.1:p.Phe358Leu | |
| NM_001146083.3:c.1074C>G | NP_001139555.1:p.Phe358Leu |