HGVS | Genome Assembly |
---|---|
NC_000014.9:g.35401527T>A , CM000676.2:g.35401527T>A | GRCh38 |
NC_000014.8:g.35870733T>A , CM000676.1:g.35870733T>A | GRCh37 |
NC_000014.7:g.34940484T>A | NCBI36 |
NG_007571.1:g.8212A>T , LRG_89:g.8212A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553342.2:c.*486A>T | ENSP00000451281.2:n.*486A>T | |
ENST00000697954.1:n.1649A>T | ||
ENST00000697955.1:n.1688A>T | ||
ENST00000697956.1:n.1716A>T | ||
ENST00000697957.1:n.1835A>T | ||
ENST00000216797.10:c.*486A>T MANE Select | ENSP00000216797.6:n.*486A>T | |
ENST00000216797.9:c.*486A>T | ENSP00000216797.5:n.*486A>T | |
NM_020529.2:c.*486A>T , LRG_89t1:c.*486A>T | NP_065390.1:n.*486A>T | |
NM_020529.3:c.*486A>T MANE Select | NP_065390.1:n.*486A>T |