HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154928574T>G , CM000685.2:g.154928574T>G | GRCh38 |
NC_000023.10:g.154156849T>G , CM000685.1:g.154156849T>G | GRCh37 |
NC_000023.9:g.153810043T>G | NCBI36 |
NG_011403.1:g.99150A>C | |
NG_011403.2:g.99150A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.5216A>C MANE Select | ENSP00000353393.4:p.Asn1739Thr | |
ENST00000360256.8:c.5216A>C | ENSP00000353393.4:p.Asn1739Thr | |
NM_000132.3:c.5216A>C | NP_000123.1:p.Asn1739Thr | |
XM_011531126.1:c.5111A>C | XP_011529428.1:p.Asn1704Thr | |
NM_000132.4:c.5216A>C MANE Select | NP_000123.1:p.Asn1739Thr |