HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128843767C>G , CM000669.2:g.128843767C>G | GRCh38 |
NC_000007.13:g.128483821C>G , CM000669.1:g.128483821C>G | GRCh37 |
NC_000007.12:g.128271057C>G | NCBI36 |
NG_011807.1:g.18339C>G , LRG_870:g.18339C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000325888.13:c.2812-29C>G MANE Select | ENSP00000327145.8:n.2812-29C>G | |
ENST00000325888.12:c.2812-29C>G | ENSP00000327145.8:n.2812-29C>G | |
ENST00000346177.6:c.2812-29C>G | ENSP00000344002.6:n.2812-29C>G | |
NM_001127487.1:c.2812-29C>G | NP_001120959.1:n.2812-29C>G | |
NM_001458.4:c.2812-29C>G , LRG_870t1:c.2812-29C>G | NP_001449.3:n.2812-29C>G | |
NM_001127487.2:c.2812-29C>G | NP_001120959.1:n.2812-29C>G | |
NM_001458.5:c.2812-29C>G MANE Select | NP_001449.3:n.2812-29C>G |