HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4817042T>G , CM000681.2:g.4817042T>G | GRCh38 |
NC_000019.9:g.4817054T>G , CM000681.1:g.4817054T>G | GRCh37 |
NC_000019.8:g.4768054T>G | NCBI36 |
NG_031998.1:g.19701A>C , LRG_358:g.19701A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1336A>C MANE Select | ENSP00000248244.4:p.Ile446Leu | |
ENST00000248244.5:c.1336A>C | ENSP00000248244.4:p.Ile446Leu | |
ENST00000621756.1:c.919A>C | ENSP00000479467.1:p.Ile307Leu | |
NM_182919.3:c.1336A>C , LRG_358t1:c.1336A>C | NP_891549.1:p.Ile446Leu | |
NM_001385678.1:c.1294A>C | NP_001372607.1:p.Ile432Leu | |
NM_001385679.1:c.1201A>C | NP_001372608.1:p.Ile401Leu | |
NM_001385680.1:c.694A>C | NP_001372609.1:p.Ile232Leu | |
NM_182919.4:c.1336A>C MANE Select | NP_891549.1:p.Ile446Leu |