HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4738774A>G , CM000679.2:g.4738774A>G | GRCh38 |
NC_000017.10:g.4642069A>G , CM000679.1:g.4642069A>G | GRCh37 |
NC_000017.9:g.4588818A>G | NCBI36 |
NG_034160.1:g.3760A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293778.12:c.218+8T>C MANE Select | ENSP00000293778.7:n.218+8T>C | |
ENST00000574412.6:c.218+8T>C | ENSP00000459592.2:n.218+8T>C | |
ENST00000293778.10:c.275+8T>C | ENSP00000293778.6:n.275+8T>C | |
ENST00000573123.1:c.56+8T>C | ENSP00000460145.1:n.56+8T>C | |
ENST00000574412.5:c.275+8T>C | ENSP00000459592.1:n.275+8T>C | |
NM_001100812.1:c.275+8T>C | NP_001094282.1:n.275+8T>C | |
NM_022059.3:c.275+8T>C | NP_071342.2:n.275+8T>C | |
NM_022059.4:c.275+8T>C | NP_071342.2:n.275+8T>C | |
NM_001100812.2:c.218+8T>C | NP_001094282.2:n.218+8T>C | |
NM_001386809.1:c.218+8T>C MANE Select | NP_001373738.1:n.218+8T>C |