HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228153C>G , CM000679.2:g.66228153C>G | GRCh38 |
NC_000017.10:g.64224271C>G , CM000679.1:g.64224271C>G | GRCh37 |
NC_000017.9:g.61654733C>G | NCBI36 |
NG_012045.1:g.6286G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.108G>C MANE Select | ENSP00000205948.6:p.Pro36= | |
ENST00000205948.10:c.108G>C | ENSP00000205948.6:p.Pro36= | |
ENST00000577982.1:c.108G>C | ENSP00000464301.1:p.Pro36= | |
ENST00000581797.5:c.-73G>C | ENSP00000463553.1:n.-73G>C | |
NM_000042.2:c.108G>C | NP_000033.2:p.Pro36= | |
NM_000042.3:c.108G>C MANE Select | NP_000033.2:p.Pro36= |