HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135804819T>G , CM000664.2:g.135804819T>G | GRCh38 |
NC_000002.11:g.136562389T>G , CM000664.1:g.136562389T>G | GRCh37 |
NC_000002.10:g.136278859T>G | NCBI36 |
NG_008104.2:g.55351A>C , LRG_338:g.55351A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264162.7:c.4412A>C MANE Select | ENSP00000264162.2:p.Asn1471Thr | |
ENST00000264162.6:c.4412A>C | ENSP00000264162.2:p.Asn1471Thr | |
ENST00000452974.1:c.2708A>C | ENSP00000391231.1:p.Asn903Thr | |
NM_002299.2:c.4412A>C , LRG_338t1:c.4412A>C | NP_002290.2:p.Asn1471Thr | |
NM_002299.3:c.4412A>C | NP_002290.2:p.Asn1471Thr | |
XM_017004088.2:c.4412A>C | XP_016859577.1:p.Asn1471Thr | |
NM_002299.4:c.4412A>C MANE Select | NP_002290.2:p.Asn1471Thr |