Linked Data
gnomAD v4:
4-4862718-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862718G>C , CM000666.2:g.4862718G>C | GRCh38 |
| NC_000004.11:g.4864445G>C , CM000666.1:g.4864445G>C | GRCh37 |
| NC_000004.10:g.4915346G>C | NCBI36 |
| NG_008121.1:g.8054G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.487G>C MANE Select | ENSP00000372170.4:p.Ala163Pro | |
| ENST00000382723.4:c.487G>C | ENSP00000372170.4:p.Ala163Pro | |
| ENST00000468421.1:n.199G>C | ||
| NM_002448.3:c.487G>C MANE Select | NP_002439.2:p.Ala163Pro |