HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863127A>G , CM000685.2:g.154863127A>G | GRCh38 |
NC_000023.10:g.154091402A>G , CM000685.1:g.154091402A>G | GRCh37 |
NC_000023.9:g.153744596A>G | NCBI36 |
NG_011403.1:g.164597T>C | |
NG_011403.2:g.164597T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6530T>C MANE Select | ENSP00000353393.4:p.Ile2177Thr | |
ENST00000644698.1:c.263T>C | ENSP00000495706.1:p.Ile88Thr | |
ENST00000330287.10:c.125T>C | ENSP00000327895.6:p.Ile42Thr | |
ENST00000360256.8:c.6530T>C | ENSP00000353393.4:p.Ile2177Thr | |
NM_000132.3:c.6530T>C | NP_000123.1:p.Ile2177Thr | |
NM_019863.2:c.125T>C | NP_063916.1:p.Ile42Thr | |
XM_011531126.1:c.6425T>C | XP_011529428.1:p.Ile2142Thr | |
NM_000132.4:c.6530T>C MANE Select | NP_000123.1:p.Ile2177Thr | |
NM_019863.3:c.125T>C | NP_063916.1:p.Ile42Thr |