HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78118207G>C , CM000685.2:g.78118207G>C | GRCh38 |
NC_000023.10:g.77373704G>C , CM000685.1:g.77373704G>C | GRCh37 |
NC_000023.9:g.77260360G>C | NCBI36 |
NG_008862.1:g.19039G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.641+37G>C MANE Select | ENSP00000362413.4:n.641+37G>C | |
ENST00000644362.1:c.557+37G>C | ENSP00000496140.1:n.557+37G>C | |
ENST00000373316.4:c.641+37G>C | ENSP00000362413.4:n.641+37G>C | |
ENST00000491291.1:n.633+37G>C | ||
NM_000291.3:c.641+37G>C | NP_000282.1:n.641+37G>C | |
NM_000291.4:c.641+37G>C MANE Select | NP_000282.1:n.641+37G>C |