HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49131035A>C , CM000665.2:g.49131035A>C | GRCh38 |
NC_000003.11:g.49168468A>C , CM000665.1:g.49168468A>C | GRCh37 |
NC_000003.10:g.49143472A>C | NCBI36 |
NG_008094.1:g.7132T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305544.9:c.830T>G MANE Select | ENSP00000307156.4:p.Leu277Arg | |
ENST00000305544.8:c.830T>G | ENSP00000307156.4:p.Leu277Arg | |
ENST00000418109.5:c.830T>G | ENSP00000388325.1:p.Leu277Arg | |
ENST00000494831.1:c.383T>G | ENSP00000444751.1:p.Leu128Arg | |
NM_002292.3:c.830T>G | NP_002283.3:p.Leu277Arg | |
XM_005265127.3:c.830T>G | XP_005265184.1:p.Leu277Arg | |
XM_005265127.4:c.830T>G | XP_005265184.1:p.Leu277Arg | |
NM_002292.4:c.830T>G MANE Select | NP_002283.3:p.Leu277Arg |