HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860541G= , CM000685.2:g.154860541G= | GRCh38 |
NC_000023.10:g.154088816G= , CM000685.1:g.154088816G= | GRCh37 |
NC_000023.9:g.153742010G= | NCBI36 |
NG_011403.1:g.167183C= | |
NG_011403.2:g.167183C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6791C= MANE Select | ENSP00000353393.4:p.Thr2264= | |
ENST00000644698.1:c.524C= | ENSP00000495706.1:p.Thr175= | |
ENST00000330287.10:c.386C= | ENSP00000327895.6:p.Thr129= | |
ENST00000360256.8:c.6791C= | ENSP00000353393.4:p.Thr2264= | |
NM_000132.3:c.6791C= | NP_000123.1:p.Thr2264= | |
NM_019863.2:c.386C= | NP_063916.1:p.Thr129= | |
XM_011531126.1:c.6686C= | XP_011529428.1:p.Thr2229= | |
NM_000132.4:c.6791C= MANE Select | NP_000123.1:p.Thr2264= | |
NM_019863.3:c.386C= | NP_063916.1:p.Thr129= |