HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49130820A>G , CM000665.2:g.49130820A>G | GRCh38 |
NC_000003.11:g.49168253A>G , CM000665.1:g.49168253A>G | GRCh37 |
NC_000003.10:g.49143257A>G | NCBI36 |
NG_008094.1:g.7347T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305544.9:c.956T>C MANE Select | ENSP00000307156.4:p.Leu319Pro | |
ENST00000305544.8:c.956T>C | ENSP00000307156.4:p.Leu319Pro | |
ENST00000418109.5:c.956T>C | ENSP00000388325.1:p.Leu319Pro | |
NM_002292.3:c.956T>C | NP_002283.3:p.Leu319Pro | |
XM_005265127.3:c.956T>C | XP_005265184.1:p.Leu319Pro | |
XM_005265127.4:c.956T>C | XP_005265184.1:p.Leu319Pro | |
NM_002292.4:c.956T>C MANE Select | NP_002283.3:p.Leu319Pro |