HGVS | Genome Assembly |
---|---|
NC_000002.12:g.178014358C>G , CM000664.2:g.178014358C>G | GRCh38 |
NC_000002.11:g.178879085C>G , CM000664.1:g.178879085C>G | GRCh37 |
NC_000002.10:g.178587331C>G | NCBI36 |
NG_012168.1:g.98982G>C | |
NG_012168.2:g.98982G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286063.11:c.1015G>C MANE Select | ENSP00000286063.5:p.Ala339Pro | |
ENST00000286063.10:c.1015G>C | ENSP00000286063.5:p.Ala339Pro | |
ENST00000358450.8:c.265G>C | ENSP00000351232.4:p.Ala89Pro | |
NM_001077197.1:c.265G>C | NP_001070665.1:p.Ala89Pro | |
NM_016953.3:c.1015G>C | NP_058649.3:p.Ala339Pro | |
NM_016953.4:c.1015G>C MANE Select | NP_058649.3:p.Ala339Pro | |
NM_001077197.2:c.265G>C | NP_001070665.1:p.Ala89Pro |