HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1295051C>G , CM000667.2:g.1295051C>G | GRCh38 |
NC_000005.9:g.1295166C>G , CM000667.1:g.1295166C>G | GRCh37 |
NC_000005.8:g.1348166C>G | NCBI36 |
NG_009265.1:g.4997G>C , LRG_343:g.4997G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310581.10:c.-62G>C MANE Select | ENSP00000309572.5:n.-62G>C | |
ENST00000522877.1:n.19G>C | ||
NM_001193376.2:c.-62G>C | NP_001180305.1:n.-62G>C | |
NM_198253.3:c.-62G>C MANE Select | NP_937983.2:n.-62G>C | |
NR_149162.2:n.18G>C | ||
NR_149163.2:n.18G>C | ||
NM_001193376.3:c.-62G>C | NP_001180305.1:n.-62G>C | |
NR_149162.3:n.18G>C | ||
NR_149163.3:n.18G>C |