HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52451685G>C , CM000674.2:g.52451685G>C | GRCh38 |
NC_000012.11:g.52845469G>C , CM000674.1:g.52845469G>C | GRCh37 |
NC_000012.10:g.51131736G>C | NCBI36 |
NG_008299.1:g.5442C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252252.4:c.394C>G MANE Select | ENSP00000252252.3:p.Pro132Ala | |
ENST00000252252.3:c.394C>G | ENSP00000252252.3:p.Pro132Ala | |
NM_005555.3:c.394C>G | NP_005546.2:p.Pro132Ala | |
NM_005555.4:c.394C>G MANE Select | NP_005546.2:p.Pro132Ala |