Linked Data
gnomAD v4:
2-47377060-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377060T>C , CM000664.2:g.47377060T>C | GRCh38 |
| NC_000002.11:g.47604199T>C , CM000664.1:g.47604199T>C | GRCh37 |
| NC_000002.10:g.47457703T>C | NCBI36 |
| NG_012352.2:g.36898T>C , LRG_215:g.36898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.538T>C MANE Select | ENSP00000263735.4:p.Phe180Leu | |
| ENST00000263735.8:c.538T>C | ENSP00000263735.4:p.Phe180Leu | |
| ENST00000405271.5:c.622T>C | ENSP00000385476.1:p.Phe208Leu | |
| ENST00000456133.5:c.622T>C | ENSP00000410675.1:p.Phe208Leu | |
| ENST00000490733.1:n.387T>C | ||
| NM_002354.2:c.538T>C , LRG_215t1:c.538T>C | NP_002345.2:p.Phe180Leu | |
| NM_002354.3:c.538T>C MANE Select | NP_002345.2:p.Phe180Leu |