HGVS | Genome Assembly |
---|---|
NC_000011.10:g.119344243C>G , CM000673.2:g.119344243C>G | GRCh38 |
NC_000011.9:g.119214953C>G , CM000673.1:g.119214953C>G | GRCh37 |
NC_000011.8:g.118720163C>G | NCBI36 |
NG_012235.1:g.7431G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000619721.6:c.975+72G>C (MFRP) MANE Select | ENSP00000481824.1:n.975+72G>C | |
ENST00000360167.4:c.898+389G>C (MFRP) | ENSP00000353291.4:n.898+389G>C | |
ENST00000619721.5:c.975+72G>C (MFRP) | ENSP00000481824.1:n.975+72G>C | |
NM_015645.4:c.-1662+72G>C (C1QTNF5) | NP_056460.1:n.-1662+72G>C | |
NM_031433.3:c.975+72G>C (MFRP) | NP_113621.1:n.975+72G>C | |
NM_031433.4:c.975+72G>C (MFRP) MANE Select | NP_113621.1:n.975+72G>C | |
NM_015645.5:c.-1662+72G>C (C1QTNF5) | NP_056460.1:n.-1662+72G>C |