HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35500067T>A , CM000668.2:g.35500067T>A | GRCh38 |
NC_000006.11:g.35467844T>A , CM000668.1:g.35467844T>A | GRCh37 |
NC_000006.10:g.35575822T>A | NCBI36 |
NG_009077.1:g.17804A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229771.11:c.1409A>T MANE Select | ENSP00000229771.6:p.Asp470Val | |
ENST00000229771.10:c.1409A>T | ENSP00000229771.6:p.Asp470Val | |
ENST00000322263.8:c.1250A>T | ENSP00000319414.4:p.Asp417Val | |
ENST00000614066.4:c.1403A>T | ENSP00000477534.1:p.Asp468Val | |
NM_001289395.1:c.1250A>T | NP_001276324.1:p.Asp417Val | |
NM_003322.4:c.1409A>T | NP_003313.3:p.Asp470Val | |
NM_003322.5:c.1409A>T | NP_003313.3:p.Asp470Val | |
NM_003322.6:c.1409A>T MANE Select | NP_003313.3:p.Asp470Val | |
NM_001289395.2:c.1250A>T | NP_001276324.1:p.Asp417Val |