Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007803C>T , CM000666.2:g.88007803C>T | GRCh38 |
| NC_000004.11:g.88928955C>T , CM000666.1:g.88928955C>T | GRCh37 |
| NC_000004.10:g.89147979C>T | NCBI36 |
| NG_008604.1:g.5136C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000297.4:c.70C>T MANE Select | NP_000288.1:p.Pro24Ser |
| ENST00000237596.7:c.70C>T MANE Select | ENSP00000237596.2:p.Pro24Ser |
| NM_000297.3:c.70C>T | NP_000288.1:p.Pro24Ser |
| NR_156488.1:n.157C>T | |
| NR_156488.2:n.169C>T | |
| ENST00000237596.6:c.70C>T | ENSP00000237596.2:p.Pro24Ser |
| XM_011532028.1:c.70C>T | XP_011530330.1:p.Pro24Ser |
| XM_011532028.2:c.70C>T | XP_011530330.1:p.Pro24Ser |
| XR_244632.2:n.165C>T |