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Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40605613G>C , CM000681.2:g.40605613G>C
GRCh38
NC_000019.9:g.41111519G>C , CM000681.1:g.41111519G>C
GRCh37
NC_000019.8:g.45803359G>C
NCBI36
NG_021201.1:g.17448G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000396819.8:c.651G>C
MANE Select
ENSP00000380031.5:p.Ser217=
ENST00000204005.13:c.741G>C
ENSP00000204005.10:p.Ser247=
ENST00000308370.11:c.852G>C
ENSP00000311905.8:p.Ser284=
ENST00000396819.7:c.651G>C
ENSP00000380031.4:p.Ser217=
ENST00000598717.5:n.428+5510G>C
NM_001042544.1:c.852G>C
NP_001036009.1:p.Ser284=
NM_001042545.1:c.651G>C
NP_001036010.1:p.Ser217=
NM_003573.2:c.741G>C
NP_003564.2:p.Ser247=
XM_011527376.1:c.852G>C
XP_011525678.1:p.Ser284=
XM_011527377.1:c.885G>C
XP_011525679.1:p.Ser295=
XM_011527378.1:c.885G>C
XP_011525680.1:p.Ser295=
XM_011527379.1:c.651G>C
XP_011525681.1:p.Ser217=
XM_011527380.1:c.885G>C
XP_011525682.1:p.Ser295=
XM_011527381.1:c.885G>C
XP_011525683.1:p.Ser295=
XM_011527382.1:c.885G>C
XP_011525684.1:p.Ser295=
XM_011527383.1:c.885G>C
XP_011525685.1:p.Ser295=
XM_011527384.1:c.885G>C
XP_011525686.1:p.Ser295=
XM_011527385.1:c.885G>C
XP_011525687.1:p.Ser295=
XM_011527386.1:c.885G>C
XP_011525688.1:p.Ser295=
XM_011527387.1:c.243G>C
XP_011525689.1:p.Ser81=
XM_011527376.2:c.852G>C
XP_011525678.1:p.Ser284=
XM_011527377.2:c.885G>C
XP_011525679.1:p.Ser295=
XM_011527378.2:c.885G>C
XP_011525680.1:p.Ser295=
XM_011527380.2:c.885G>C
XP_011525682.1:p.Ser295=
XM_011527381.2:c.885G>C
XP_011525683.1:p.Ser295=
XM_011527382.2:c.885G>C
XP_011525684.1:p.Ser295=
XM_011527383.2:c.885G>C
XP_011525685.1:p.Ser295=
XM_011527384.2:c.885G>C
XP_011525686.1:p.Ser295=
XM_011527385.2:c.885G>C
XP_011525687.1:p.Ser295=
XM_011527386.2:c.885G>C
XP_011525688.1:p.Ser295=
XM_017027352.1:c.885G>C
XP_016882841.1:p.Ser295=
XM_017027353.1:c.885G>C
XP_016882842.1:p.Ser295=
XM_017027354.1:c.885G>C
XP_016882843.1:p.Ser295=
NM_001042545.2:c.651G>C
MANE Select
NP_001036010.1:p.Ser217=