HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57094558T>C , CM000674.2:g.57094558T>C | GRCh38 |
NC_000012.11:g.57488341T>C , CM000674.1:g.57488341T>C | GRCh37 |
NC_000012.10:g.55774608T>C | NCBI36 |
NG_021272.1:g.21856A>G | |
NG_021272.2:g.42582A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300131.8:c.1469-54T>C MANE Select | ENSP00000300131.3:n.1469-54T>C | |
ENST00000300131.7:c.1469-54T>C | ENSP00000300131.3:n.1469-54T>C | |
ENST00000342556.6:c.1277-54T>C | ENSP00000341491.6:n.1277-54T>C | |
NM_005967.3:c.1469-54T>C | NP_005958.1:n.1469-54T>C | |
XM_005268894.2:c.1277-54T>C | XP_005268951.1:n.1277-54T>C | |
NM_001330305.1:c.1277-54T>C | NP_001317234.1:n.1277-54T>C | |
NM_005967.4:c.1469-54T>C MANE Select | NP_005958.1:n.1469-54T>C | |
NM_001330305.2:c.1277-54T>C | NP_001317234.1:n.1277-54T>C |