HGVS | Genome Assembly |
---|---|
NC_000009.12:g.127818737C>T , CM000671.2:g.127818737C>T | GRCh38 |
NC_000009.11:g.130581016C>T , CM000671.1:g.130581016C>T | GRCh37 |
NC_000009.10:g.129620837C>T | NCBI36 |
NG_009551.1:g.41032G>A , LRG_589:g.41032G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000480266.6:c.861G>A | ENSP00000479015.1:p.Pro287= | |
ENST00000373203.9:c.1407G>A MANE Select | ENSP00000362299.4:p.Pro469= | |
ENST00000344849.4:c.1407G>A | ENSP00000341917.3:p.Pro469= | |
ENST00000373203.8:c.1407G>A | ENSP00000362299.4:p.Pro469= | |
ENST00000480266.5:c.861G>A | ENSP00000479015.1:p.Pro287= | |
NM_000118.3:c.1407G>A , LRG_589t1:c.1407G>A | NP_000109.1:p.Pro469= | |
NM_001114753.2:c.1407G>A , LRG_589t2:c.1407G>A | NP_001108225.1:p.Pro469= | |
NM_001278138.1:c.861G>A | NP_001265067.1:p.Pro287= | |
NR_136302.1:n.1568+26C>T | ||
NM_001114753.3:c.1407G>A MANE Select | NP_001108225.1:p.Pro469= | |
NM_001278138.2:c.861G>A | NP_001265067.1:p.Pro287= |