HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189565597T>C , CM000664.2:g.189565597T>C | GRCh38 |
NC_000002.11:g.190430323T>C , CM000664.1:g.190430323T>C | GRCh37 |
NC_000002.10:g.190138568T>C | NCBI36 |
NG_009027.1:g.20215A>G , LRG_837:g.20215A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.517A>G MANE Select | ENSP00000261024.3:p.Met173Val | |
ENST00000261024.6:c.517A>G | ENSP00000261024.2:p.Met173Val | |
ENST00000427241.5:c.517A>G | ENSP00000390005.1:p.Met173Val | |
NM_014585.5:c.517A>G , LRG_837t1:c.517A>G | NP_055400.1:p.Met173Val | |
XM_005246505.1:c.397A>G | XP_005246562.1:p.Met133Val | |
XM_005246505.2:c.397A>G | XP_005246562.1:p.Met133Val | |
XM_017003938.2:c.397A>G | XP_016859427.1:p.Met133Val | |
NM_014585.6:c.517A>G MANE Select | NP_055400.1:p.Met173Val |