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Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.8121763G>A , CM000679.2:g.8121763G>A
GRCh38
NC_000017.10:g.8025081G>A , CM000679.1:g.8025081G>A
GRCh37
NC_000017.9:g.7965806G>A
NCBI36
NG_015807.1:g.2154C>T
NG_015816.1:g.7330C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000541682.7:c.501C>T
MANE Select
ENSP00000446205.2:p.Pro167=
ENST00000317814.8:c.486C>T
ENSP00000314774.4:p.Pro162=
ENST00000541682.6:c.501C>T
ENSP00000446205.2:p.Pro167=
NM_001165967.1:c.501C>T
NP_001159439.1:p.Pro167=
NM_032580.3:c.486C>T
NP_115969.2:p.Pro162=
XM_011524038.1:c.606C>T
XP_011522340.1:p.Pro202=
XM_011524039.1:c.597C>T
XP_011522341.1:p.Pro199=
XM_011524040.1:c.597C>T
XP_011522342.1:p.Pro199=
XM_011524041.1:c.588C>T
XP_011522343.1:p.Pro196=
XM_011524042.1:c.459C>T
XP_011522344.1:p.Pro153=
XR_934203.1:n.69+1949G>A
XM_017025232.1:c.606C>T
XP_016880721.1:p.Pro202=
XM_024451007.1:c.606C>T
XP_024306775.1:p.Pro202=
NM_001165967.2:c.501C>T
MANE Select
NP_001159439.1:p.Pro167=
NM_032580.4:c.486C>T
NP_115969.2:p.Pro162=