HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56983363A>C , CM000678.2:g.56983363A>C | GRCh38 |
NC_000016.9:g.57017275A>C , CM000678.1:g.57017275A>C | GRCh37 |
NC_000016.8:g.55574776A>C | NCBI36 |
NG_008952.1:g.26441A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000200676.8:c.1359A>C MANE Select | ENSP00000200676.3:p.Lys453Asn | |
ENST00000650358.1:n.1757A>C | ||
ENST00000200676.7:c.1359A>C | ENSP00000200676.3:p.Lys453Asn | |
ENST00000379780.6:c.1179A>C | ENSP00000369106.2:p.Lys393Asn | |
ENST00000566128.1:c.1164A>C | ENSP00000456276.1:p.Lys388Asn | |
NM_000078.2:c.1359A>C | NP_000069.2:p.Lys453Asn | |
NM_001286085.1:c.1179A>C | NP_001273014.1:p.Lys393Asn | |
NM_000078.3:c.1359A>C MANE Select | NP_000069.2:p.Lys453Asn | |
NM_001286085.2:c.1179A>C | NP_001273014.1:p.Lys393Asn |