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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.89648408G>A , CM000677.2:g.89648408G>A
GRCh38
NC_000015.9:g.90191639G>A , CM000677.1:g.90191639G>A
GRCh37
NC_000015.8:g.87992643G>A
NCBI36
NG_030338.1:g.12044C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_198525.3:c.1290C>T
MANE Select
NP_940927.2:p.Pro430=
ENST00000394412.8:c.1290C>T
MANE Select
ENSP00000377934.3:p.Pro430=
NM_198525.2:c.1290C>T
NP_940927.2:p.Pro430=
ENST00000394412.7:c.1290C>T
ENSP00000377934.3:p.Pro430=
ENST00000696512.1:c.1413C>T
ENSP00000512678.1:p.Pro471=
XM_005254902.2:c.1290C>T
XP_005254959.1:p.Pro430=
XM_011521531.1:c.1413C>T
XP_011519833.1:p.Pro471=
XM_011521531.2:c.1413C>T
XP_011519833.1:p.Pro471=
XM_011521532.1:c.1413C>T
XP_011519834.1:p.Pro471=
XM_011521533.1:c.1413C>T
XP_011519835.1:p.Pro471=
XM_011521534.1:c.1413C>T
XP_011519836.1:p.Pro471=
XM_011521535.1:c.1413C>T
XP_011519837.1:p.Pro471=
XM_011521536.1:c.1413C>T
XP_011519838.1:p.Pro471=
XM_011521537.1:c.1413C>T
XP_011519839.1:p.Pro471=