Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008252G= , CM000666.2:g.88008252G= | GRCh38 |
| NC_000004.11:g.88929404G= , CM000666.1:g.88929404G= | GRCh37 |
| NC_000004.10:g.89148428G= | NCBI36 |
| NG_008604.1:g.5585G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.519G= MANE Select | ENSP00000237596.2:p.Pro173= | |
| ENST00000237596.6:c.519G= | ENSP00000237596.2:p.Pro173= | |
| ENST00000506727.1:n.21G= | ||
| NM_000297.3:c.519G= | NP_000288.1:p.Pro173= | |
| XM_011532028.1:c.519G= | XP_011530330.1:p.Pro173= | |
| XR_244632.2:n.614G= | ||
| NR_156488.1:n.606G= | ||
| XM_011532028.2:c.519G= | XP_011530330.1:p.Pro173= | |
| NM_000297.4:c.519G= MANE Select | NP_000288.1:p.Pro173= | |
| NR_156488.2:n.618G= |