HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107767776T>G , CM000669.2:g.107767776T>G | GRCh38 |
NC_000007.13:g.107408221T>G , CM000669.1:g.107408221T>G | GRCh37 |
NC_000007.12:g.107195457T>G | NCBI36 |
NG_008046.1:g.40458A>C , LRG_683:g.40458A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000340010.10:c.2195A>C MANE Select | ENSP00000345873.5:p.Asn732Thr | |
ENST00000340010.9:c.2195A>C | ENSP00000345873.5:p.Asn732Thr | |
ENST00000379083.7:c.*1752A>C | ENSP00000368375.3:n.*1752A>C | |
NM_000111.2:c.2195A>C , LRG_683t1:c.2195A>C | NP_000102.1:p.Asn732Thr | |
XM_011515867.1:c.2195A>C | XP_011514169.1:p.Asn732Thr | |
NM_000111.3:c.2195A>C MANE Select | NP_000102.1:p.Asn732Thr |