Linked Data
dbSNP Id:
rs1439260948
gnomAD v3:
X-77652057-C-T
gnomAD v4:
X-77652057-C-T
MyVariant Identifiers:
chrX:g.77652057C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77652057C>T , CM000685.2:g.77652057C>T | GRCh38 |
| NC_000023.10:g.76907547C>T , CM000685.1:g.76907547C>T | GRCh37 |
| NC_000023.9:g.76794203C>T | NCBI36 |
| NG_008838.2:g.139165G>A | |
| NG_008838.3:g.139213G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.4557+57G>A MANE Select | ENSP00000362441.4:n.4557+57G>A | |
| ENST00000373344.9:c.4557+57G>A | ENSP00000362441.4:n.4557+57G>A | |
| ENST00000395603.7:c.4443+57G>A | ENSP00000378967.3:n.4443+57G>A | |
| ENST00000460639.2:n.37+57G>A | ||
| ENST00000480283.5:c.*4185+57G>A | ENSP00000480196.1:n.*4185+57G>A | |
| ENST00000623242.3:c.220G>A | ||
| NM_000489.4:c.4557+57G>A | NP_000480.3:n.4557+57G>A | |
| NM_138270.3:c.4443+57G>A | NP_612114.2:n.4443+57G>A | |
| XM_005262153.3:c.4554+57G>A | XP_005262210.2:n.4554+57G>A | |
| XM_005262154.3:c.4470+57G>A | XP_005262211.2:n.4470+57G>A | |
| XM_005262155.3:c.4440+57G>A | XP_005262212.2:n.4440+57G>A | |
| XM_005262156.3:c.4392+57G>A | XP_005262213.2:n.4392+57G>A | |
| XM_005262157.3:c.4353+57G>A | XP_005262214.2:n.4353+57G>A | |
| XM_006724666.2:c.4440+57G>A | XP_006724729.1:n.4440+57G>A | |
| XM_006724667.2:c.4278+57G>A | XP_006724730.1:n.4278+57G>A | |
| XM_006724668.2:c.4557+57G>A | XP_006724731.1:n.4557+57G>A | |
| XR_938400.1:n.4825+57G>A | ||
| NM_000489.5:c.4557+57G>A | NP_000480.3:n.4557+57G>A | |
| XM_005262153.5:c.4554+57G>A | XP_005262210.2:n.4554+57G>A | |
| XM_005262154.5:c.4470+57G>A | XP_005262211.2:n.4470+57G>A | |
| XM_005262155.4:c.4440+57G>A | XP_005262212.2:n.4440+57G>A | |
| XM_005262156.4:c.4392+57G>A | XP_005262213.2:n.4392+57G>A | |
| XM_005262157.5:c.4353+57G>A | XP_005262214.2:n.4353+57G>A | |
| XM_006724666.4:c.4440+57G>A | XP_006724729.1:n.4440+57G>A | |
| XM_006724667.3:c.4278+57G>A | XP_006724730.1:n.4278+57G>A | |
| XM_006724668.3:c.4557+57G>A | XP_006724731.1:n.4557+57G>A | |
| XM_017029601.2:c.4467+57G>A | XP_016885090.1:n.4467+57G>A | |
| XM_017029602.1:c.4437+57G>A | XP_016885091.1:n.4437+57G>A | |
| XM_017029603.1:c.4389+57G>A | XP_016885092.1:n.4389+57G>A | |
| XM_017029604.2:c.4356+57G>A | XP_016885093.1:n.4356+57G>A | |
| XM_017029605.1:c.4353+57G>A | XP_016885094.1:n.4353+57G>A | |
| XM_017029606.2:c.4326+57G>A | XP_016885095.1:n.4326+57G>A | |
| XM_017029607.2:c.4323+57G>A | XP_016885096.1:n.4323+57G>A | |
| XM_017029608.2:c.4275+57G>A | XP_016885097.1:n.4275+57G>A | |
| XM_017029609.1:c.4239+57G>A | XP_016885098.1:n.4239+57G>A | |
| XM_017029610.1:c.4236+57G>A | XP_016885099.1:n.4236+57G>A | |
| XM_017029611.1:c.4191+57G>A | XP_016885100.1:n.4191+57G>A | |
| XR_001755700.2:n.4782+57G>A | ||
| NM_138270.4:c.4443+57G>A | NP_612114.2:n.4443+57G>A | |
| NM_000489.6:c.4557+57G>A MANE Select | NP_000480.3:n.4557+57G>A | |
| NM_138270.5:c.4443+57G>A | NP_612114.2:n.4443+57G>A |