HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492647A>G , CM000674.2:g.52492647A>G | GRCh38 |
NC_000012.11:g.52886431A>G , CM000674.1:g.52886431A>G | GRCh37 |
NC_000012.10:g.51172698A>G | NCBI36 |
NG_008298.1:g.5751T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.540+2T>C MANE Select | ENSP00000369317.3:n.540+2T>C | |
ENST00000330722.6:c.540+2T>C | ENSP00000369317.3:n.540+2T>C | |
ENST00000549898.5:n.61+2T>C | ||
NM_005554.3:c.540+2T>C | NP_005545.1:n.540+2T>C | |
NM_005554.4:c.540+2T>C MANE Select | NP_005545.1:n.540+2T>C |