HGVS | Genome Assembly |
---|---|
NC_000007.14:g.132174919G>T , CM000669.2:g.132174919G>T | GRCh38 |
NC_000007.13:g.131859678G>T , CM000669.1:g.131859678G>T | GRCh37 |
NC_000007.12:g.131510218G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321063.9:c.3876C>A MANE Select | ENSP00000323194.4:p.Ala1292= | |
ENST00000321063.8:c.3876C>A | ENSP00000323194.4:p.Ala1292= | |
ENST00000359827.7:c.3876C>A | ENSP00000352882.3:p.Ala1292= | |
NM_020911.1:c.3876C>A | NP_065962.1:p.Ala1292= | |
XM_005250686.3:c.3876C>A | XP_005250743.1:p.Ala1292= | |
XM_006716171.2:c.3876C>A | XP_006716234.1:p.Ala1292= | |
XM_011516676.1:c.3876C>A | XP_011514978.1:p.Ala1292= | |
XR_927546.1:n.4011C>A | ||
XM_005250686.5:c.3876C>A | XP_005250743.1:p.Ala1292= | |
XM_006716171.4:c.3876C>A | XP_006716234.1:p.Ala1292= | |
XM_011516676.2:c.3876C>A | XP_011514978.1:p.Ala1292= | |
XM_017012779.1:c.3675C>A | XP_016868268.1:p.Ala1225= | |
XR_927546.2:n.4011C>A | ||
NM_001393897.1:c.3876C>A | NP_001380826.1:p.Ala1292= | |
NM_020911.2:c.3876C>A MANE Select | NP_065962.1:p.Ala1292= |