Linked Data
MyVariant Identifiers:
chr1:g.2234819C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2303380C>A , CM000663.2:g.2303380C>A | GRCh38 |
| NC_000001.10:g.2234819C>A , CM000663.1:g.2234819C>A | GRCh37 |
| NC_000001.9:g.2224679C>A | NCBI36 |
| NG_013084.1:g.79686C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704337.1:n.359C>A | ||
| ENST00000378536.5:c.1191C>A MANE Select | ENSP00000367797.4:p.Leu397= | |
| ENST00000378536.4:c.1191C>A | ENSP00000367797.4:p.Leu397= | |
| NM_003036.3:c.1191C>A | NP_003027.1:p.Leu397= | |
| XM_005244775.2:c.1191C>A | XP_005244832.1:p.Leu397= | |
| XM_005244776.3:c.321C>A | XP_005244833.1:p.Leu107= | |
| XM_005244775.3:c.1191C>A | XP_005244832.1:p.Leu397= | |
| XM_005244776.4:c.321C>A | XP_005244833.1:p.Leu107= | |
| XM_017002128.1:c.699C>A | XP_016857617.1:p.Leu233= | |
| NM_003036.4:c.1191C>A MANE Select | NP_003027.1:p.Leu397= |