HGVS | Genome Assembly |
---|---|
NC_000009.12:g.97687274T>G , CM000671.2:g.97687274T>G | GRCh38 |
NC_000009.11:g.100449556T>G , CM000671.1:g.100449556T>G | GRCh37 |
NC_000009.10:g.99489377T>G | NCBI36 |
NG_011642.1:g.15136A>C , LRG_471:g.15136A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375128.5:c.390-13A>C MANE Select | ENSP00000364270.5:n.390-13A>C | |
ENST00000375128.4:c.390-13A>C | ENSP00000364270.4:n.390-13A>C | |
ENST00000462523.5:c.390-13A>C | ENSP00000433006.1:n.390-13A>C | |
ENST00000496104.1:n.184-13A>C | ||
NM_000380.3:c.390-13A>C , LRG_471t1:c.390-13A>C | NP_000371.1:n.390-13A>C | |
NR_027302.1:n.507-13A>C | ||
XM_006717278.1:c.390-13A>C | XP_006717341.1:n.390-13A>C | |
XM_011518988.1:c.390-13A>C | XP_011517290.1:n.390-13A>C | |
XR_929839.1:n.501-13A>C | ||
NM_001354975.1:c.264-13A>C | NP_001341904.1:n.264-13A>C | |
NR_149091.1:n.401-2234A>C | ||
NR_149092.1:n.401-13A>C | ||
NR_149093.1:n.507-13A>C | ||
NR_149094.1:n.401-13A>C | ||
NM_000380.4:c.390-13A>C MANE Select | NP_000371.1:n.390-13A>C | |
NM_001354975.2:c.264-13A>C | NP_001341904.1:n.264-13A>C | |
NR_027302.2:n.438-13A>C | ||
NR_149091.2:n.332-2234A>C | ||
NR_149092.2:n.332-13A>C | ||
NR_149093.2:n.438-13A>C | ||
NR_149094.2:n.332-13A>C |