HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104033899C>G , CM000672.2:g.104033899C>G | GRCh38 |
NC_000010.10:g.105793657C>G , CM000672.1:g.105793657C>G | GRCh37 |
NC_000010.9:g.105783647C>G | NCBI36 |
NG_007069.1:g.56982G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.3910+46G>C | ENSP00000358748.3:n.3910+46G>C | |
ENST00000647647.1:c.186+46G>C | ||
ENST00000648076.2:c.4156+46G>C MANE Select | ENSP00000497653.1:n.4156+46G>C | |
ENST00000353479.9:c.4156+46G>C | ENSP00000340937.5:n.4156+46G>C | |
ENST00000369733.7:c.3910+46G>C | ENSP00000358748.3:n.3910+46G>C | |
NM_000494.3:c.4156+46G>C | NP_000485.3:n.4156+46G>C | |
NM_000494.4:c.4156+46G>C MANE Select | NP_000485.3:n.4156+46G>C |