HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98541955T>C , CM000671.2:g.98541955T>C | GRCh38 |
NC_000009.11:g.101304237T>C , CM000671.1:g.101304237T>C | GRCh37 |
NC_000009.10:g.100344058T>C | NCBI36 |
NG_016426.1:g.172243A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259455.4:c.548A>G MANE Select | ENSP00000259455.2:p.Asn183Ser | |
ENST00000637410.1:n.326A>G | ||
ENST00000637717.1:c.164A>G | ENSP00000490789.1:p.Asn55Ser | |
ENST00000259455.3:c.548A>G | ENSP00000259455.2:p.Asn183Ser | |
ENST00000477471.1:n.335A>G | ||
ENST00000634227.1:n.322A>G | ||
NM_005458.7:c.548A>G | NP_005449.5:p.Asn183Ser | |
XM_017015331.2:c.254A>G | XP_016870820.1:p.Asn85Ser | |
NM_005458.8:c.548A>G MANE Select | NP_005449.5:p.Asn183Ser |