Linked Data
gnomAD v4:
4-55081958-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081958A>C , CM000666.2:g.55081958A>C | GRCh38 |
| NC_000004.11:g.55948125A>C , CM000666.1:g.55948125A>C | GRCh37 |
| NC_000004.10:g.55642882A>C | NCBI36 |
| NG_012004.1:g.48638T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3846T>G MANE Select | ENSP00000263923.4:p.Phe1282Leu | |
| ENST00000647068.1:n.3859T>G | ||
| ENST00000263923.4:c.3846T>G | ENSP00000263923.4:p.Phe1282Leu | |
| NM_002253.2:c.3846T>G | NP_002244.1:p.Phe1282Leu | |
| NM_002253.3:c.3846T>G | NP_002244.1:p.Phe1282Leu | |
| NM_002253.4:c.3846T>G MANE Select | NP_002244.1:p.Phe1282Leu |