HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35499980C>T , CM000668.2:g.35499980C>T | GRCh38 |
NC_000006.11:g.35467757C>T , CM000668.1:g.35467757C>T | GRCh37 |
NC_000006.10:g.35575735C>T | NCBI36 |
NG_009077.1:g.17891G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229771.11:c.1495+1G>A MANE Select | ENSP00000229771.6:n.1495+1G>A | |
ENST00000229771.10:c.1495+1G>A | ENSP00000229771.6:n.1495+1G>A | |
ENST00000322263.8:c.1336+1G>A | ENSP00000319414.4:n.1336+1G>A | |
ENST00000614066.4:c.1489+1G>A | ENSP00000477534.1:n.1489+1G>A | |
NM_001289395.1:c.1336+1G>A | NP_001276324.1:n.1336+1G>A | |
NM_003322.4:c.1495+1G>A | NP_003313.3:n.1495+1G>A | |
NM_003322.5:c.1495+1G>A | NP_003313.3:n.1495+1G>A | |
NM_003322.6:c.1495+1G>A MANE Select | NP_003313.3:n.1495+1G>A | |
NM_001289395.2:c.1336+1G>A | NP_001276324.1:n.1336+1G>A |