Canonical Allele Identifier: CA694104

Identifiers and link-outs to other resources

dbSNP Id: rs1053360

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25301597G>A , CM000663.2:g.25301597G>A GRCh38
NC_000001.10:g.25628088G>A , CM000663.1:g.25628088G>A GRCh37
NC_000001.9:g.25500675G>A NCBI36
NG_007494.1:g.34108G>A

Transcript Alleles

HGVS Amino-acid change
NM_001127691.2:c.712G>A (RHD) VV NP_001121163.1:p.Val238Met
NM_001282867.1:c.214G>A (RHD) VV NP_001269796.1:p.Val72Met
NM_001282868.1:c.712G>A (RHD) VV NP_001269797.1:p.Val238Met
NM_001282869.1:c.712G>A (RHD) VV NP_001269798.1:p.Val238Met
NM_001282870.1:c.712G>A (RHD) VV NP_001269799.1:p.Val238Met
NM_001282871.1:c.712G>A (RHD) VV NP_001269800.1:p.Val238Met
NM_001282872.1:c.712G>A (RHD) VV NP_001269801.1:p.Val238Met
NM_016124.4:c.712G>A (RHD) VV NP_057208.2:p.Val238Met
XM_011541892.1:c.712G>A (RHD) XP_011540194.1:p.Val238Met
XR_946734.1:n.867G>A (RHD)
XR_946735.1:n.867G>A (RHD)
XR_946736.1:n.867G>A (RHD)
XR_946737.1:n.867G>A (RHD)
XR_947098.1:n.144-9829C>T
NM_001321772.1:c.-67+35443C>T (RSRP1) VV NP_001308701.1:p.=
NR_135787.1:n.1215+35443C>T (RSRP1)
NR_135788.1:n.277+36381C>T (RSRP1)
NR_135789.1:n.1215+35443C>T (RSRP1)
XM_017002015.1:c.712G>A (RHD) XP_016857504.1:p.Val238Met
XR_946737.2:n.867G>A (RHD)
ENST00000328664.8:c.712G>A ENSP00000331871.4:p.Val238Met
ENST00000342055.9:n.712G>A ENSP00000339577.5:p.Val238Met
ENST00000357542.8:n.712G>A ENSP00000350150.4:p.Val238Met
ENST00000417538.6:n.712G>A ENSP00000396420.2:p.Val238Met
ENST00000423253.1:n.712G>A
ENST00000423810.6:n.712G>A ENSP00000399640.2:p.Val238Met
ENST00000454452.6:c.712G>A ENSP00000413849.2:p.Val238Met
ENST00000473314.6:c.-67+35443C>T ENSP00000457582.1:p.=
ENST00000561867.1:c.-67+36381C>T ENSP00000456995.1:p.=
ENST00000564398.5:n.867G>A
ENST00000568195.5:n.712G>A ENSP00000456966.1:p.Val238Met
ENST00000568996.1:c.-67+36472C>T ENSP00000458042.1:p.=
ENST00000615607.1:n.712G>A ENSP00000480925.1:p.Val238Met
ENST00000622561.4:c.712G>A ENSP00000478087.1:p.Val238Met