HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862870G>C , CM000671.2:g.130862870G>C | GRCh38 |
NC_000009.11:g.133738257G>C , CM000671.1:g.133738257G>C | GRCh37 |
NC_000009.10:g.132728078G>C | NCBI36 |
NG_012034.1:g.153990G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000372348.9:c.714G>C | ENSP00000361423.2:p.Lys238Asn | |
ENST00000318560.6:c.657G>C MANE Select | ENSP00000323315.5:p.Lys219Asn | |
ENST00000372348.7:c.714G>C | ENSP00000361423.2:p.Lys238Asn | |
ENST00000318560.5:c.657G>C | ENSP00000323315.5:p.Lys219Asn | |
ENST00000372348.6:c.714G>C | ENSP00000361423.2:p.Lys238Asn | |
NM_005157.5:c.657G>C | NP_005148.2:p.Lys219Asn | |
NM_007313.2:c.714G>C | NP_009297.2:p.Lys238Asn | |
NM_005157.6:c.657G>C MANE Select | NP_005148.2:p.Lys219Asn | |
NM_007313.3:c.714G>C | NP_009297.2:p.Lys238Asn |