HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917515T>C , CM000685.2:g.29917515T>C | GRCh38 |
NC_000023.10:g.29935632T>C , CM000685.1:g.29935632T>C | GRCh37 |
NC_000023.9:g.29845553T>C | NCBI36 |
NG_008292.1:g.1334952T>C | |
NG_008292.2:g.1334952T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.830T>C MANE Select | ENSP00000368278.1:p.Val277Ala | |
ENST00000302196.5:c.53T>C | ENSP00000305200.5:p.Val18Ala | |
ENST00000378993.5:c.830T>C | ENSP00000368278.1:p.Val277Ala | |
NM_014271.3:c.830T>C | NP_055086.1:p.Val277Ala | |
XM_005274441.1:c.830T>C | XP_005274498.1:p.Val277Ala | |
XM_011545445.1:c.830T>C | XP_011543747.1:p.Val277Ala | |
XM_017029240.1:c.830T>C | XP_016884729.1:p.Val277Ala | |
XM_017029241.1:c.452T>C | XP_016884730.1:p.Val151Ala | |
NM_014271.4:c.830T>C MANE Select | NP_055086.1:p.Val277Ala |