HGVS | Genome Assembly |
---|---|
NC_000002.12:g.135859131T>A , CM000664.2:g.135859131T>A | GRCh38 |
NC_000002.11:g.136616701T>A , CM000664.1:g.136616701T>A | GRCh37 |
NC_000002.10:g.136333171T>A | NCBI36 |
NG_008104.2:g.1039A>T , LRG_338:g.1039A>T | |
NG_008958.1:g.22311A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264156.3:c.1362+170A>T MANE Select | ENSP00000264156.2:n.1362+170A>T | |
ENST00000264156.2:c.1362+170A>T | ENSP00000264156.2:n.1362+170A>T | |
ENST00000492091.1:n.181+3476A>T | ||
NM_005915.5:c.1362+170A>T | NP_005906.2:n.1362+170A>T | |
NM_005915.6:c.1362+170A>T MANE Select | NP_005906.2:n.1362+170A>T |