HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134835422A>G , CM000671.2:g.134835422A>G | GRCh38 |
NC_000009.11:g.137727268A>G , CM000671.1:g.137727268A>G | GRCh37 |
NC_000009.10:g.136867089A>G | NCBI36 |
NG_008030.1:g.198617A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371820.4:c.5370+218A>G | ENSP00000360885.4:n.5370+218A>G | |
ENST00000371817.8:c.5370+218A>G MANE Select | ENSP00000360882.3:n.5370+218A>G | |
ENST00000371817.7:c.5370+218A>G | ENSP00000360882.3:n.5370+218A>G | |
ENST00000618395.4:c.5370+218A>G | ENSP00000481360.1:n.5370+218A>G | |
NM_000093.4:c.5370+218A>G | NP_000084.3:n.5370+218A>G | |
NM_001278074.1:c.5370+218A>G | NP_001265003.1:n.5370+218A>G | |
NR_103451.2:n.71-15213T>C | ||
NM_000093.5:c.5370+218A>G MANE Select | NP_000084.3:n.5370+218A>G |