Linked Data
gnomAD v4:
5-14871374-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871374A>C , CM000667.2:g.14871374A>C | GRCh38 |
| NC_000005.9:g.14871483A>C , CM000667.1:g.14871483A>C | GRCh37 |
| NC_000005.8:g.14924483A>C | NCBI36 |
| NG_008273.1:g.5405T>G | |
| NG_008273.2:g.5412T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.74T>G MANE Select | ENSP00000284268.6:p.Ile25Arg | |
| ENST00000284268.6:c.74T>G | ENSP00000284268.6:p.Ile25Arg | |
| ENST00000505140.1:c.74T>G | ENSP00000426332.1:p.Ile25Arg | |
| ENST00000513115.1:n.99T>G | ||
| NM_054027.4:c.74T>G | NP_473368.1:p.Ile25Arg | |
| XM_011514067.1:c.74T>G | XP_011512369.1:p.Ile25Arg | |
| NM_054027.5:c.74T>G | NP_473368.1:p.Ile25Arg | |
| NM_054027.6:c.74T>G MANE Select | NP_473368.1:p.Ile25Arg |