HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107698090A>C , CM000669.2:g.107698090A>C | GRCh38 |
NC_000007.13:g.107338535A>C , CM000669.1:g.107338535A>C | GRCh37 |
NC_000007.12:g.107125771A>C | NCBI36 |
NG_008489.1:g.42456A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1593A>C MANE Select | ENSP00000494017.1:p.Lys531Asn | |
ENST00000644846.1:c.304A>C | ||
ENST00000265715.7:c.1593A>C | ENSP00000265715.3:p.Lys531Asn | |
ENST00000477350.5:n.440A>C | ||
ENST00000480841.5:n.442A>C | ||
NM_000441.1:c.1593A>C | NP_000432.1:p.Lys531Asn | |
XM_005250425.1:c.1593A>C | XP_005250482.1:p.Lys531Asn | |
XM_005250425.2:c.1593A>C | XP_005250482.1:p.Lys531Asn | |
XM_017012318.1:c.1515A>C | XP_016867807.1:p.Lys505Asn | |
NM_000441.2:c.1593A>C MANE Select | NP_000432.1:p.Lys531Asn |