HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186194593A>G , CM000666.2:g.186194593A>G | GRCh38 |
NC_000004.11:g.187115747A>G , CM000666.1:g.187115747A>G | GRCh37 |
NC_000004.10:g.187352741A>G | NCBI36 |
NG_007965.1:g.8074A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.308A>G MANE Select | ENSP00000368079.4:p.Tyr103Cys | |
ENST00000378802.4:c.308A>G | ENSP00000368079.4:p.Tyr103Cys | |
NM_207352.3:c.308A>G | NP_997235.3:p.Tyr103Cys | |
XM_005262935.2:c.308A>G | XP_005262992.1:p.Tyr103Cys | |
XM_006714184.2:c.-3A>G | XP_006714247.1:n.-3A>G | |
XM_005262935.4:c.308A>G | XP_005262992.1:p.Tyr103Cys | |
XM_017008037.1:c.-3A>G | XP_016863526.1:n.-3A>G | |
NM_207352.4:c.308A>G MANE Select | NP_997235.3:p.Tyr103Cys |