HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863165A>T , CM000685.2:g.154863165A>T | GRCh38 |
NC_000023.10:g.154091440A>T , CM000685.1:g.154091440A>T | GRCh37 |
NC_000023.9:g.153744634A>T | NCBI36 |
NG_011403.1:g.164559T>A | |
NG_011403.2:g.164559T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6492T>A MANE Select | ENSP00000353393.4:p.Ile2164= | |
ENST00000644698.1:c.225T>A | ENSP00000495706.1:p.Ile75= | |
ENST00000330287.10:c.87T>A | ENSP00000327895.6:p.Ile29= | |
ENST00000360256.8:c.6492T>A | ENSP00000353393.4:p.Ile2164= | |
NM_000132.3:c.6492T>A | NP_000123.1:p.Ile2164= | |
NM_019863.2:c.87T>A | NP_063916.1:p.Ile29= | |
XM_011531126.1:c.6387T>A | XP_011529428.1:p.Ile2129= | |
NM_000132.4:c.6492T>A MANE Select | NP_000123.1:p.Ile2164= | |
NM_019863.3:c.87T>A | NP_063916.1:p.Ile29= |