HGVS | Genome Assembly |
---|---|
NC_000009.12:g.130862877A>C , CM000671.2:g.130862877A>C | GRCh38 |
NC_000009.11:g.133738264A>C , CM000671.1:g.133738264A>C | GRCh37 |
NC_000009.10:g.132728085A>C | NCBI36 |
NG_012034.1:g.153997A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372348.9:c.721A>C | ENSP00000361423.2:p.Lys241Gln | |
ENST00000318560.6:c.664A>C MANE Select | ENSP00000323315.5:p.Lys222Gln | |
ENST00000372348.7:c.721A>C | ENSP00000361423.2:p.Lys241Gln | |
ENST00000318560.5:c.664A>C | ENSP00000323315.5:p.Lys222Gln | |
ENST00000372348.6:c.721A>C | ENSP00000361423.2:p.Lys241Gln | |
NM_005157.5:c.664A>C | NP_005148.2:p.Lys222Gln | |
NM_007313.2:c.721A>C | NP_009297.2:p.Lys241Gln | |
NM_005157.6:c.664A>C MANE Select | NP_005148.2:p.Lys222Gln | |
NM_007313.3:c.721A>C | NP_009297.2:p.Lys241Gln |