HGVS | Genome Assembly |
---|---|
NC_000013.11:g.110503855G>A , CM000675.2:g.110503855G>A | GRCh38 |
NC_000013.10:g.111156202G>A , CM000675.1:g.111156202G>A | GRCh37 |
NC_000013.9:g.109954203G>A | NCBI36 |
NG_032137.1:g.201572G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360467.7:c.4147G>A (COL4A2) MANE Select | ENSP00000353654.5:p.Gly1383Arg | |
ENST00000649396.1:n.105G>A (COL4A2) | ||
ENST00000650225.1:n.1802G>A (COL4A2) | ||
ENST00000650322.1:n.79G>A (COL4A2) | ||
ENST00000360467.5:c.4147G>A (COL4A2) | ENSP00000353654.5:p.Gly1383Arg | |
NM_001846.2:c.4147G>A (COL4A2) | NP_001837.2:p.Gly1383Arg | |
NR_046583.1:n.187-927C>T (COL4A2-AS1) | ||
NM_001846.3:c.4147G>A (COL4A2) | NP_001837.2:p.Gly1383Arg | |
NM_001846.4:c.4147G>A (COL4A2) MANE Select | NP_001837.2:p.Gly1383Arg |