HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215779943A>T , CM000663.2:g.215779943A>T | GRCh38 |
NC_000001.10:g.215953285A>T , CM000663.1:g.215953285A>T | GRCh37 |
NC_000001.9:g.214019908A>T | NCBI36 |
NG_009497.1:g.648454T>A | |
NG_009497.2:g.648506T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.10839T>A MANE Select | ENSP00000305941.3:p.Pro3613= | |
ENST00000674083.1:c.10839T>A | ENSP00000501296.1:p.Pro3613= | |
ENST00000307340.7:c.10839T>A | ENSP00000305941.3:p.Pro3613= | |
NM_206933.2:c.10839T>A | NP_996816.2:p.Pro3613= | |
NM_206933.3:c.10839T>A | NP_996816.2:p.Pro3613= | |
NM_206933.4:c.10839T>A MANE Select | NP_996816.3:p.Pro3613= |