Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119150937T>C , CM000666.2:g.119150937T>C | GRCh38 |
| NC_000004.11:g.120072092T>C , CM000666.1:g.120072092T>C | GRCh37 |
| NC_000004.10:g.120291540T>C | NCBI36 |
| NG_029747.1:g.20154T>C , LRG_396:g.20154T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307128.6:c.142T>C MANE Select | ENSP00000306997.6:p.Ser48Pro | |
| ENST00000307128.5:c.142T>C | ENSP00000306997.5:p.Ser48Pro | |
| NM_016599.4:c.142T>C , LRG_396t1:c.142T>C | NP_057683.1:p.Ser48Pro | |
| XM_006714234.2:c.142T>C | XP_006714297.1:p.Ser48Pro | |
| XM_006714234.4:c.142T>C | XP_006714297.1:p.Ser48Pro | |
| NM_016599.5:c.142T>C MANE Select | NP_057683.1:p.Ser48Pro |