HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98542013C>G , CM000671.2:g.98542013C>G | GRCh38 |
NC_000009.11:g.101304295C>G , CM000671.1:g.101304295C>G | GRCh37 |
NC_000009.10:g.100344116C>G | NCBI36 |
NG_016426.1:g.172185G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.490G>C MANE Select | ENSP00000259455.2:p.Ala164Pro | |
ENST00000637410.1:n.268G>C | ||
ENST00000637717.1:c.106G>C | ENSP00000490789.1:p.Ala36Pro | |
ENST00000638001.1:n.100G>C | ||
ENST00000259455.3:c.490G>C | ENSP00000259455.2:p.Ala164Pro | |
ENST00000477471.1:n.277G>C | ||
ENST00000634227.1:n.264G>C | ||
NM_005458.7:c.490G>C | NP_005449.5:p.Ala164Pro | |
XM_017015331.2:c.196G>C | XP_016870820.1:p.Ala66Pro | |
NM_005458.8:c.490G>C MANE Select | NP_005449.5:p.Ala164Pro |