HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357347T>G , CM000667.2:g.128357347T>G | GRCh38 |
NC_000005.9:g.127693039T>G , CM000667.1:g.127693039T>G | GRCh37 |
NC_000005.8:g.127720938T>G | NCBI36 |
NG_008750.1:g.185697A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2603A>C MANE Select | ENSP00000262464.4:p.Asn868Thr | |
ENST00000262464.8:c.2603A>C | ENSP00000262464.4:p.Asn868Thr | |
ENST00000508053.5:c.2603A>C | ENSP00000424571.1:p.Asn868Thr | |
ENST00000508989.5:c.2504A>C | ENSP00000425596.1:p.Asn835Thr | |
ENST00000619499.4:c.2600A>C | ENSP00000482132.1:p.Asn867Thr | |
NM_001999.3:c.2603A>C | NP_001990.2:p.Asn868Thr | |
XM_017009228.2:c.2450A>C | XP_016864717.1:p.Asn817Thr | |
NM_001999.4:c.2603A>C MANE Select | NP_001990.2:p.Asn868Thr |