Linked Data
ClinVar Variation Id:
373588
ClinVar RCV Id:
RCV000413116
dbSNP Id:
rs368737099
ExAC:
X:2867447 G / A
gnomAD v2:
X-2867447-G-A
gnomAD v3:
X-2949406-G-A
gnomAD v4:
X-2949406-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2949406G>A , CM000685.2:g.2949406G>A | GRCh38 |
| NC_000023.10:g.2867447G>A , CM000685.1:g.2867447G>A | GRCh37 |
| NC_000023.9:g.2877447G>A | NCBI36 |
| NG_007091.1:g.19865C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540563.6:c.752C>T | ENSP00000438198.2:p.Ala251Val | |
| ENST00000681963.1:c.827C>T | ENSP00000507760.1:p.Ala276Val | |
| ENST00000682184.1:c.629C>T | ENSP00000507043.1:p.Ala210Val | |
| ENST00000682364.1:c.430+3737C>T | ENSP00000507604.1:n.430+3737C>T | |
| ENST00000683191.1:n.532C>T | ||
| ENST00000683290.1:c.827C>T | ENSP00000508156.1:p.Ala276Val | |
| ENST00000683677.1:c.740C>T | ENSP00000506786.1:p.Ala247Val | |
| ENST00000683958.1:c.752C>T | ENSP00000507756.1:p.Ala251Val | |
| ENST00000684077.1:c.590C>T | ENSP00000506767.1:p.Ala197Val | |
| ENST00000684117.1:c.590C>T | ENSP00000508337.1:p.Ala197Val | |
| ENST00000684364.1:c.740C>T | ENSP00000507304.1:p.Ala247Val | |
| ENST00000684687.1:c.590C>T | ENSP00000507266.1:p.Ala197Val | |
| ENST00000684738.1:c.430+3737C>T | ENSP00000507481.1:n.430+3737C>T | |
| ENST00000381134.9:c.752C>T MANE Select | ENSP00000370526.3:p.Ala251Val | |
| ENST00000545496.6:c.827C>T | ENSP00000441417.1:p.Ala276Val | |
| ENST00000672027.1:c.827C>T | ENSP00000500220.1:p.Ala276Val | |
| ENST00000672097.1:c.752C>T | ENSP00000500727.1:p.Ala251Val | |
| ENST00000672606.1:c.430+3737C>T | ENSP00000500638.1:n.430+3737C>T | |
| ENST00000672761.1:c.590C>T | ENSP00000500108.1:p.Ala197Val | |
| ENST00000673032.1:c.590C>T | ENSP00000500778.1:p.Ala197Val | |
| ENST00000381134.7:c.752C>T | ENSP00000370526.3:p.Ala251Val | |
| ENST00000540563.5:c.617C>T | ENSP00000438198.1:p.Ala206Val | |
| ENST00000545496.5:c.827C>T | ENSP00000441417.1:p.Ala276Val | |
| NM_000047.2:c.752C>T | NP_000038.2:p.Ala251Val | |
| NM_001282628.1:c.827C>T | NP_001269557.1:p.Ala276Val | |
| NM_001282631.1:c.617C>T | NP_001269560.1:p.Ala206Val | |
| XM_005274518.2:c.779C>T | XP_005274575.1:p.Ala260Val | |
| XM_005274519.3:c.752C>T | XP_005274576.1:p.Ala251Val | |
| XM_005274521.3:c.590C>T | XP_005274578.1:p.Ala197Val | |
| XM_011545519.1:c.590C>T | XP_011543821.1:p.Ala197Val | |
| XM_011545520.1:c.505+3737C>T | XP_011543822.1:n.505+3737C>T | |
| XM_011545521.1:c.430+3737C>T | XP_011543823.1:n.430+3737C>T | |
| XM_005274519.4:c.752C>T | XP_005274576.1:p.Ala251Val | |
| XM_005274521.4:c.590C>T | XP_005274578.1:p.Ala197Val | |
| XM_017029525.1:c.827C>T | XP_016885014.1:p.Ala276Val | |
| XM_017029526.1:c.505+3737C>T | XP_016885015.1:n.505+3737C>T | |
| NM_000047.3:c.752C>T MANE Select | NP_000038.2:p.Ala251Val | |
| NM_001282631.2:c.590C>T | NP_001269560.2:p.Ala197Val | |
| NM_001369079.1:c.779C>T | NP_001356008.1:p.Ala260Val | |
| NM_001369080.1:c.827C>T | NP_001356009.1:p.Ala276Val | |
| NM_001282628.2:c.827C>T | NP_001269557.1:p.Ala276Val |