HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133638656T>C , CM000671.2:g.133638656T>C | GRCh38 |
NC_000009.11:g.136503778T>C , CM000671.1:g.136503778T>C | GRCh37 |
NC_000009.10:g.135493599T>C | NCBI36 |
NG_008645.1:g.7294T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263611.3:c.333+1946T>C | ENSP00000263611.3:n.333+1946T>C | |
ENST00000393056.8:c.340-1190T>C MANE Select | ENSP00000376776.2:n.340-1190T>C | |
ENST00000263611.2:c.297+1946T>C | ENSP00000263611.2:n.297+1946T>C | |
ENST00000393056.6:c.340-1190T>C | ENSP00000376776.2:n.340-1190T>C | |
NM_000787.3:c.340-1190T>C | NP_000778.3:n.340-1190T>C | |
NM_000787.4:c.340-1190T>C MANE Select | NP_000778.3:n.340-1190T>C |