HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48702972A>G , CM000681.2:g.48702972A>G | GRCh38 |
NC_000019.9:g.49206229A>G , CM000681.1:g.49206229A>G | GRCh37 |
NC_000019.8:g.53898041A>G | NCBI36 |
NG_007511.1:g.12002A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000425340.3:c.16A>G MANE Select | ENSP00000387498.2:p.Met6Val | |
ENST00000522966.2:c.16A>G | ENSP00000430227.2:p.Met6Val | |
ENST00000391876.5:c.16A>G | ENSP00000375748.4:p.Met6Val | |
ENST00000425340.2:c.16A>G | ENSP00000387498.2:p.Met6Val | |
ENST00000522966.1:c.16A>G | ENSP00000430227.1:p.Met6Val | |
NM_000511.5:c.16A>G | NP_000502.4:p.Met6Val | |
NM_001097638.2:c.16A>G | NP_001091107.1:p.Met6Val | |
NR_131188.1:n.877T>C | ||
NM_000511.6:c.16A>G MANE Select | NP_000502.4:p.Met6Val | |
NM_001097638.3:c.16A>G | NP_001091107.1:p.Met6Val |