Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160949838G= , CM000663.2:g.160949838G= | GRCh38 |
| NC_000001.10:g.160919628G= , CM000663.1:g.160919628G= | GRCh37 |
| NC_000001.9:g.159186252G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080878.3:c.721+208C= MANE Select | NP_543154.1:n.721+208C= |
| ENST00000368029.4:c.721+208C= MANE Select | ENSP00000357008.3:n.721+208C= |
| NM_080878.2:c.721+208C= | NP_543154.1:n.721+208C= |
| NR_110695.1:n.2052G= | |
| ENST00000368029.3:c.721+208C= | ENSP00000357008.3:n.721+208C= |
| ENST00000494442.1:n.581+208C= | |
| XM_011509210.1:c.721+208C= | XP_011507512.1:n.721+208C= |
| XM_011509211.1:c.718+208C= | XP_011507513.1:n.718+208C= |
| XM_024453321.1:c.718+208C= | XP_024309089.1:n.718+208C= |