Linked Data
ClinVar Variation Id:
167164
dbSNP Id:
rs199953428
ExAC:
X:153215030 G / A
gnomAD v2:
X-153215030-G-A
gnomAD v3:
X-153949579-G-A
gnomAD v4:
X-153949579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153949579G>A , CM000685.2:g.153949579G>A | GRCh38 |
| NC_000023.10:g.153215030G>A , CM000685.1:g.153215030G>A | GRCh37 |
| NC_000023.9:g.152868224G>A | NCBI36 |
| NG_012513.1:g.26790C>T | |
| NG_012522.1:g.203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.6042C>T MANE Select | ENSP00000309555.7:p.Asn2014= | |
| ENST00000310441.11:c.6042C>T | ENSP00000309555.7:p.Asn2014= | |
| ENST00000369984.4:c.6177C>T | ENSP00000359001.4:p.Asn2059= | |
| ENST00000444191.5:c.1768C>T | ||
| NM_005334.2:c.6042C>T | NP_005325.2:p.Asn2014= | |
| XM_006724815.1:c.6177C>T | XP_006724878.1:p.Asn2059= | |
| XM_006724816.1:c.6174C>T | XP_006724879.1:p.Asn2058= | |
| XM_011531144.1:c.6186C>T | XP_011529446.1:p.Asn2062= | |
| XM_011531145.1:c.6183C>T | XP_011529447.1:p.Asn2061= | |
| XM_011531146.1:c.6183C>T | XP_011529448.1:p.Asn2061= | |
| XM_011531147.1:c.6054C>T | XP_011529449.1:p.Asn2018= | |
| XM_011531148.1:c.6051C>T | XP_011529450.1:p.Asn2017= | |
| XM_011531149.1:c.5988C>T | XP_011529451.1:p.Asn1996= | |
| XM_011531150.1:c.5277C>T | XP_011529452.1:p.Asn1759= | |
| XM_006724815.3:c.6177C>T | XP_006724878.1:p.Asn2059= | |
| XM_006724816.3:c.6174C>T | XP_006724879.1:p.Asn2058= | |
| XM_011531147.3:c.6054C>T | XP_011529449.1:p.Asn2018= | |
| XM_011531148.3:c.6051C>T | XP_011529450.1:p.Asn2017= | |
| XM_017029471.2:c.5976C>T | XP_016884960.1:p.Asn1992= | |
| XM_017029472.1:c.5265C>T | XP_016884961.1:p.Asn1755= | |
| NM_005334.3:c.6042C>T MANE Select | NP_005325.2:p.Asn2014= |