HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492558C>G , CM000674.2:g.52492558C>G | GRCh38 |
NC_000012.11:g.52886342C>G , CM000674.1:g.52886342C>G | GRCh37 |
NC_000012.10:g.51172609C>G | NCBI36 |
NG_008298.1:g.5840G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330722.7:c.540+91G>C MANE Select | ENSP00000369317.3:n.540+91G>C | |
ENST00000330722.6:c.540+91G>C | ENSP00000369317.3:n.540+91G>C | |
ENST00000549898.5:n.61+91G>C | ||
NM_005554.3:c.540+91G>C | NP_005545.1:n.540+91G>C | |
NM_005554.4:c.540+91G>C MANE Select | NP_005545.1:n.540+91G>C |