HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142954170C>T , CM000669.2:g.142954170C>T | GRCh38 |
NC_000007.13:g.142651257C>T , CM000669.1:g.142651257C>T | GRCh37 |
NC_000007.12:g.142361379C>T | NCBI36 |
NG_007492.1:g.13247G>A | |
NG_007492.2:g.13247G>A | |
NG_007492.3:g.13247G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.924+14G>A MANE Select | ENSP00000347409.2:n.924+14G>A | |
ENST00000355265.6:c.924+14G>A | ENSP00000347409.2:n.924+14G>A | |
ENST00000479768.6:n.1042+14G>A | ||
NM_000420.2:c.924+14G>A | NP_000411.1:n.924+14G>A | |
XM_005249993.2:c.960+14G>A | XP_005250050.1:n.960+14G>A | |
XM_005249994.3:c.-24+14G>A | XP_005250051.1:n.-24+14G>A | |
NM_000420.3:c.924+14G>A MANE Select | NP_000411.1:n.924+14G>A |