HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860543A>G , CM000685.2:g.154860543A>G | GRCh38 |
NC_000023.10:g.154088818A>G , CM000685.1:g.154088818A>G | GRCh37 |
NC_000023.9:g.153742012A>G | NCBI36 |
NG_011403.1:g.167181T>C | |
NG_011403.2:g.167181T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6789T>C MANE Select | ENSP00000353393.4:p.Thr2263= | |
ENST00000644698.1:c.522T>C | ENSP00000495706.1:p.Thr174= | |
ENST00000330287.10:c.384T>C | ENSP00000327895.6:p.Thr128= | |
ENST00000360256.8:c.6789T>C | ENSP00000353393.4:p.Thr2263= | |
NM_000132.3:c.6789T>C | NP_000123.1:p.Thr2263= | |
NM_019863.2:c.384T>C | NP_063916.1:p.Thr128= | |
XM_011531126.1:c.6684T>C | XP_011529428.1:p.Thr2228= | |
NM_000132.4:c.6789T>C MANE Select | NP_000123.1:p.Thr2263= | |
NM_019863.3:c.384T>C | NP_063916.1:p.Thr128= |