Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113879741C= , CM000669.2:g.113879741C= | GRCh38 |
| NC_000007.13:g.113519796C= , CM000669.1:g.113519796C= | GRCh37 |
| NC_000007.12:g.113307032C= | NCBI36 |
| NG_012116.1:g.44287G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002711.4:c.1351G= MANE Select | NP_002702.2:p.Val451= |
| ENST00000284601.4:c.1351G= MANE Select | ENSP00000284601.3:p.Val451= |
| NM_002711.3:c.1351G= | NP_002702.2:p.Val451= |
| ENST00000284601.3:c.1351G= | ENSP00000284601.3:p.Val451= |
| ENST00000449795.5:c.388G= | ENSP00000401278.1:p.Val130= |
| XM_005250473.2:c.748G= | XP_005250530.1:p.Val250= |
| XM_005250473.3:c.748G= | XP_005250530.1:p.Val250= |