HGVS | Genome Assembly |
---|---|
NC_000003.12:g.49131137G>C , CM000665.2:g.49131137G>C | GRCh38 |
NC_000003.11:g.49168570G>C , CM000665.1:g.49168570G>C | GRCh37 |
NC_000003.10:g.49143574G>C | NCBI36 |
NG_008094.1:g.7030C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305544.9:c.728C>G MANE Select | ENSP00000307156.4:p.Thr243Ser | |
ENST00000305544.8:c.728C>G | ENSP00000307156.4:p.Thr243Ser | |
ENST00000418109.5:c.728C>G | ENSP00000388325.1:p.Thr243Ser | |
ENST00000494831.1:c.281C>G | ENSP00000444751.1:p.Thr94Ser | |
NM_002292.3:c.728C>G | NP_002283.3:p.Thr243Ser | |
XM_005265127.3:c.728C>G | XP_005265184.1:p.Thr243Ser | |
XM_005265127.4:c.728C>G | XP_005265184.1:p.Thr243Ser | |
NM_002292.4:c.728C>G MANE Select | NP_002283.3:p.Thr243Ser |