Linked Data
ClinVar Variation Id:
281530
dbSNP Id:
rs782696086
ExAC:
X:76937193 C / G
gnomAD v2:
X-76937193-C-G
gnomAD v4:
X-77681701-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77681701C>G , CM000685.2:g.77681701C>G | GRCh38 |
| NC_000023.10:g.76937193C>G , CM000685.1:g.76937193C>G | GRCh37 |
| NC_000023.9:g.76823849C>G | NCBI36 |
| NG_008838.2:g.109521G>C | |
| NG_008838.3:g.109569G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3555G>C MANE Select | ENSP00000362441.4:p.Lys1185Asn | |
| ENST00000373344.9:c.3555G>C | ENSP00000362441.4:p.Lys1185Asn | |
| ENST00000395603.7:c.3441G>C | ENSP00000378967.3:p.Lys1147Asn | |
| ENST00000480283.5:c.*3183G>C | ENSP00000480196.1:n.*3183G>C | |
| ENST00000493470.2:c.441G>C | ENSP00000485408.1:p.Lys147Asn | |
| ENST00000624166.3:c.3351G>C | ENSP00000485103.1:p.Lys1117Asn | |
| NM_000489.4:c.3555G>C | NP_000480.3:p.Lys1185Asn | |
| NM_138270.3:c.3441G>C | NP_612114.2:p.Lys1147Asn | |
| XM_005262153.3:c.3552G>C | XP_005262210.2:p.Lys1184Asn | |
| XM_005262154.3:c.3468G>C | XP_005262211.2:p.Lys1156Asn | |
| XM_005262155.3:c.3438G>C | XP_005262212.2:p.Lys1146Asn | |
| XM_005262156.3:c.3390G>C | XP_005262213.2:p.Lys1130Asn | |
| XM_005262157.3:c.3351G>C | XP_005262214.2:p.Lys1117Asn | |
| XM_006724666.2:c.3438G>C | XP_006724729.1:p.Lys1146Asn | |
| XM_006724667.2:c.3276G>C | XP_006724730.1:p.Lys1092Asn | |
| XM_006724668.2:c.3555G>C | XP_006724731.1:p.Lys1185Asn | |
| XR_938400.1:n.3823G>C | ||
| NM_000489.5:c.3555G>C | NP_000480.3:p.Lys1185Asn | |
| XM_005262153.5:c.3552G>C | XP_005262210.2:p.Lys1184Asn | |
| XM_005262154.5:c.3468G>C | XP_005262211.2:p.Lys1156Asn | |
| XM_005262155.4:c.3438G>C | XP_005262212.2:p.Lys1146Asn | |
| XM_005262156.4:c.3390G>C | XP_005262213.2:p.Lys1130Asn | |
| XM_005262157.5:c.3351G>C | XP_005262214.2:p.Lys1117Asn | |
| XM_006724666.4:c.3438G>C | XP_006724729.1:p.Lys1146Asn | |
| XM_006724667.3:c.3276G>C | XP_006724730.1:p.Lys1092Asn | |
| XM_006724668.3:c.3555G>C | XP_006724731.1:p.Lys1185Asn | |
| XM_017029601.2:c.3465G>C | XP_016885090.1:p.Lys1155Asn | |
| XM_017029602.1:c.3435G>C | XP_016885091.1:p.Lys1145Asn | |
| XM_017029603.1:c.3387G>C | XP_016885092.1:p.Lys1129Asn | |
| XM_017029604.2:c.3354G>C | XP_016885093.1:p.Lys1118Asn | |
| XM_017029605.1:c.3351G>C | XP_016885094.1:p.Lys1117Asn | |
| XM_017029606.2:c.3324G>C | XP_016885095.1:p.Lys1108Asn | |
| XM_017029607.2:c.3321G>C | XP_016885096.1:p.Lys1107Asn | |
| XM_017029608.2:c.3273G>C | XP_016885097.1:p.Lys1091Asn | |
| XM_017029609.1:c.3237G>C | XP_016885098.1:p.Lys1079Asn | |
| XM_017029610.1:c.3234G>C | XP_016885099.1:p.Lys1078Asn | |
| XM_017029611.1:c.3189G>C | XP_016885100.1:p.Lys1063Asn | |
| XR_001755700.2:n.3780G>C | ||
| NM_138270.4:c.3441G>C | NP_612114.2:p.Lys1147Asn | |
| NM_000489.6:c.3555G>C MANE Select | NP_000480.3:p.Lys1185Asn | |
| NM_138270.5:c.3441G>C | NP_612114.2:p.Lys1147Asn |