HGVS | Genome Assembly |
---|---|
NC_000006.12:g.154405854G>A , CM000668.2:g.154405854G>A | GRCh38 |
NC_000006.11:g.154726988G>A , CM000668.1:g.154726988G>A | GRCh37 |
NC_000006.10:g.154768680G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000607772.6:c.*500C>T MANE Select | ENSP00000475915.1:n.*500C>T | |
ENST00000673182.1:c.1369+4489C>T | ENSP00000499846.1:n.1369+4489C>T | |
ENST00000433165.6:n.1956C>T | ||
ENST00000607772.5:c.*500C>T | ENSP00000475915.1:n.*500C>T | |
ENST00000616478.4:c.1369+4489C>T | ENSP00000478800.1:n.1369+4489C>T | |
NM_173515.2:c.*500C>T | NP_775786.2:n.*500C>T | |
XM_011535485.1:c.*500C>T | XP_011533787.1:n.*500C>T | |
NM_173515.3:c.*500C>T | NP_775786.2:n.*500C>T | |
XM_011535485.3:c.*500C>T | XP_011533787.1:n.*500C>T | |
NM_173515.4:c.*500C>T MANE Select | NP_775786.2:n.*500C>T | |
NM_001368116.1:c.*500C>T | NP_001355045.1:n.*500C>T | |
NM_001368117.1:c.*508C>T | NP_001355046.1:n.*508C>T | |
NM_001368118.1:c.*500C>T | NP_001355047.1:n.*500C>T | |
NM_001368119.1:c.*500C>T | NP_001355048.1:n.*500C>T |