HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136676618C>G , CM000671.2:g.136676618C>G | GRCh38 |
NC_000009.11:g.139571070C>G , CM000671.1:g.139571070C>G | GRCh37 |
NC_000009.10:g.138690891C>G | NCBI36 |
NG_008090.1:g.15842G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371696.7:c.555G>C MANE Select | ENSP00000360761.2:p.Lys185Asn | |
ENST00000371694.7:c.492+343G>C | ENSP00000360759.3:n.492+343G>C | |
ENST00000371696.6:c.555G>C | ENSP00000360761.2:p.Lys185Asn | |
ENST00000472820.1:n.483G>C | ||
ENST00000538402.1:c.555G>C | ENSP00000438919.1:p.Lys185Asn | |
NM_001012727.1:c.492+343G>C | NP_001012745.1:n.492+343G>C | |
NM_006412.3:c.555G>C | NP_006403.2:p.Lys185Asn | |
NM_006412.4:c.555G>C MANE Select | NP_006403.2:p.Lys185Asn | |
NM_001012727.2:c.492+343G>C | NP_001012745.1:n.492+343G>C |