HGVS | Genome Assembly |
---|---|
NC_000002.12:g.214978756C>G , CM000664.2:g.214978756C>G | GRCh38 |
NC_000002.11:g.215843480C>G , CM000664.1:g.215843480C>G | GRCh37 |
NC_000002.10:g.215551725C>G | NCBI36 |
NG_007074.1:g.164672G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272895.12:c.4977+48G>C MANE Select | ENSP00000272895.7:n.4977+48G>C | |
ENST00000272895.11:c.4977+48G>C | ENSP00000272895.7:n.4977+48G>C | |
ENST00000389661.4:c.4023+48G>C | ENSP00000374312.4:n.4023+48G>C | |
NM_015657.3:c.4023+48G>C | NP_056472.2:n.4023+48G>C | |
NM_173076.2:c.4977+48G>C | NP_775099.2:n.4977+48G>C | |
NR_103740.1:n.5277+48G>C | ||
XM_011510951.1:c.4986+48G>C | XP_011509253.1:n.4986+48G>C | |
XM_011510952.1:c.4986+48G>C | XP_011509254.1:n.4986+48G>C | |
XM_011510951.2:c.4986+48G>C | XP_011509253.1:n.4986+48G>C | |
NM_173076.3:c.4977+48G>C MANE Select | NP_775099.2:n.4977+48G>C | |
NR_103740.2:n.5475+48G>C | ||
NM_015657.4:c.4023+48G>C | NP_056472.2:n.4023+48G>C |