Linked Data
MyVariant Identifiers:
chr11:g.45931712G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910161G>A , CM000673.2:g.45910161G>A | GRCh38 |
| NC_000011.9:g.45931712G>A , CM000673.1:g.45931712G>A | GRCh37 |
| NC_000011.8:g.45888288G>A | NCBI36 |
| NG_008460.1:g.12963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*93C>T MANE Select | ENSP00000368024.5:n.*93C>T | |
| ENST00000241041.7:c.969C>T | ENSP00000241041.3:p.Ala323= | |
| NM_004813.2:c.*93C>T | NP_004804.1:n.*93C>T | |
| NM_057174.2:c.969C>T | NP_476515.1:p.Ala323= | |
| NM_004813.3:c.*93C>T | NP_004804.1:n.*93C>T | |
| NM_004813.4:c.*93C>T MANE Select | NP_004804.2:n.*93C>T | |
| NM_057174.3:c.969C>T | NP_476515.2:p.Ala323= |