HGVS | Genome Assembly |
---|---|
NC_000016.10:g.30737378T>C , CM000678.2:g.30737378T>C | GRCh38 |
NC_000016.9:g.30748699T>C , CM000678.1:g.30748699T>C | GRCh37 |
NC_000016.8:g.30656200T>C | NCBI36 |
NG_032135.1:g.43238T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000411466.7:c.7338T>C | ENSP00000405186.3:p.Thr2446= | |
ENST00000704023.1:c.1593+25T>C | ||
ENST00000706321.1:c.7338T>C | ENSP00000516346.1:p.Thr2446= | |
ENST00000262518.9:c.7338T>C MANE Select | ENSP00000262518.4:p.Thr2446= | |
ENST00000262518.8:c.7338T>C | ENSP00000262518.4:p.Thr2446= | |
ENST00000380361.7:c.6807T>C | ENSP00000369719.3:p.Thr2269= | |
ENST00000395059.6:c.6561T>C | ENSP00000378499.3:p.Thr2187= | |
NM_006662.2:c.7338T>C | NP_006653.2:p.Thr2446= | |
NM_006662.3:c.7338T>C MANE Select | NP_006653.2:p.Thr2446= |