HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154956962T>G , CM000685.2:g.154956962T>G | GRCh38 |
NC_000023.10:g.154185237T>G , CM000685.1:g.154185237T>G | GRCh37 |
NC_000023.9:g.153838431T>G | NCBI36 |
NG_011403.1:g.70762A>C | |
NG_011403.2:g.70762A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1747A>C MANE Select | ENSP00000353393.4:p.Asn583His | |
ENST00000647125.1:c.*1623A>C | ENSP00000496062.1:n.*1623A>C | |
ENST00000360256.8:c.1747A>C | ENSP00000353393.4:p.Asn583His | |
NM_000132.3:c.1747A>C | NP_000123.1:p.Asn583His | |
XM_011531126.1:c.1642A>C | XP_011529428.1:p.Asn548His | |
NM_000132.4:c.1747A>C MANE Select | NP_000123.1:p.Asn583His |