HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816423G>A , CM000681.2:g.4816423G>A | GRCh38 |
NC_000019.9:g.4816435G>A , CM000681.1:g.4816435G>A | GRCh37 |
NC_000019.8:g.4767435G>A | NCBI36 |
NG_031998.1:g.20320C>T , LRG_358:g.20320C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1955C>T MANE Select | ENSP00000248244.4:p.Pro652Leu | |
ENST00000248244.5:c.1955C>T | ENSP00000248244.4:p.Pro652Leu | |
ENST00000621756.1:c.1480-23C>T | ENSP00000479467.1:n.1480-23C>T | |
NM_182919.3:c.1955C>T , LRG_358t1:c.1955C>T | NP_891549.1:p.Pro652Leu | |
NM_001385678.1:c.1913C>T | NP_001372607.1:p.Pro638Leu | |
NM_001385679.1:c.1820C>T | NP_001372608.1:p.Pro607Leu | |
NM_001385680.1:c.1313C>T | NP_001372609.1:p.Pro438Leu | |
NM_182919.4:c.1955C>T MANE Select | NP_891549.1:p.Pro652Leu |