HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110911007T>C , CM000674.2:g.110911007T>C | GRCh38 |
NC_000012.11:g.111348811T>C , CM000674.1:g.111348811T>C | GRCh37 |
NC_000012.10:g.109833194T>C | NCBI36 |
NG_007554.1:g.14571A>G , LRG_393:g.14571A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.*70A>G MANE Select | ENSP00000228841.8:n.*70A>G | |
ENST00000663220.1:c.*70A>G | ENSP00000499568.1:n.*70A>G | |
ENST00000228841.12:c.*70A>G | ENSP00000228841.7:n.*70A>G | |
ENST00000548438.1:c.*70A>G | ENSP00000447154.1:n.*70A>G | |
NM_000432.3:c.*70A>G , LRG_393t1:c.*70A>G | NP_000423.2:n.*70A>G | |
NM_000432.4:c.*70A>G MANE Select | NP_000423.2:n.*70A>G |