Linked Data
ClinVar Variation Id:
226566
dbSNP Id:
rs5972599
ExAC:
X:32591741 G / A
gnomAD v2:
X-32591741-G-A
gnomAD v3:
X-32573624-G-A
gnomAD v4:
X-32573624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32573624G>A , CM000685.2:g.32573624G>A | GRCh38 |
| NC_000023.10:g.32591741G>A , CM000685.1:g.32591741G>A | GRCh37 |
| NC_000023.9:g.32501662G>A | NCBI36 |
| NG_012232.1:g.770986C>T , LRG_199:g.770986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682071.1:c.1349C>T | ENSP00000508133.1:p.Ala450Val | |
| ENST00000682899.1:n.1925C>T | ||
| ENST00000682924.1:c.*217C>T | ENSP00000508187.1:n.*217C>T | |
| ENST00000683985.1:n.1925C>T | ||
| ENST00000684165.1:n.1925C>T | ||
| ENST00000684292.1:n.1925C>T | ||
| ENST00000288447.9:c.1694C>T | ENSP00000288447.4:p.Ala565Val | |
| ENST00000357033.9:c.1718C>T MANE Select | ENSP00000354923.3:p.Ala573Val | |
| ENST00000288447.8:c.1694C>T | ENSP00000288447.4:p.Ala565Val | |
| ENST00000357033.8:c.1718C>T | ENSP00000354923.3:p.Ala573Val | |
| ENST00000378677.6:c.1706C>T | ENSP00000367948.2:p.Ala569Val | |
| ENST00000420596.5:c.94-208425C>T | ENSP00000399897.1:n.94-208425C>T | |
| ENST00000447523.1:c.362C>T | ENSP00000395904.1:p.Ala121Val | |
| ENST00000448370.5:c.94-208914C>T | ENSP00000388559.1:n.94-208914C>T | |
| ENST00000480751.1:n.202C>T | ||
| ENST00000488902.5:n.336-356561C>T | ||
| ENST00000619831.4:c.1706C>T | ENSP00000479270.1:p.Ala569Val | |
| ENST00000620040.4:c.1718C>T | ENSP00000478150.1:p.Ala573Val | |
| NM_000109.3:c.1694C>T | NP_000100.2:p.Ala565Val | |
| NM_004006.2:c.1718C>T , LRG_199t1:c.1718C>T | NP_003997.1:p.Ala573Val | |
| NM_004009.3:c.1706C>T | NP_004000.1:p.Ala569Val | |
| NM_004010.3:c.1349C>T | NP_004001.1:p.Ala450Val | |
| XM_006724468.2:c.1718C>T | XP_006724531.1:p.Ala573Val | |
| XM_006724469.2:c.1694C>T | XP_006724532.1:p.Ala565Val | |
| XM_006724470.2:c.1718C>T | XP_006724533.1:p.Ala573Val | |
| XM_006724471.2:c.1718C>T | XP_006724534.1:p.Ala573Val | |
| XM_006724472.2:c.1589C>T | XP_006724535.1:p.Ala530Val | |
| XM_006724473.2:c.1718C>T | XP_006724536.1:p.Ala573Val | |
| XM_006724474.2:c.1718C>T | XP_006724537.1:p.Ala573Val | |
| XM_006724475.2:c.1718C>T | XP_006724538.1:p.Ala573Val | |
| XM_011545467.1:c.1718C>T | XP_011543769.1:p.Ala573Val | |
| XM_011545468.1:c.1718C>T | XP_011543770.1:p.Ala573Val | |
| XM_011545469.1:c.1718C>T | XP_011543771.1:p.Ala573Val | |
| XM_006724469.3:c.1694C>T | XP_006724532.1:p.Ala565Val | |
| XM_006724470.3:c.1718C>T | XP_006724533.1:p.Ala573Val | |
| XM_006724474.3:c.1718C>T | XP_006724537.1:p.Ala573Val | |
| XM_011545468.2:c.1718C>T | XP_011543770.1:p.Ala573Val | |
| XM_017029328.1:c.1718C>T | XP_016884817.1:p.Ala573Val | |
| XM_017029329.1:c.1718C>T | XP_016884818.1:p.Ala573Val | |
| XM_017029330.2:c.1718C>T | XP_016884819.1:p.Ala573Val | |
| NM_000109.4:c.1694C>T | NP_000100.3:p.Ala565Val | |
| NM_004006.3:c.1718C>T MANE Select | NP_003997.2:p.Ala573Val |