Linked Data
ClinVar Variation Id:
201758
ClinVar RCV Id:
RCV000555681
RCV001002415
RCV001168047
RCV000853164
RCV001833105
RCV001852355
RCV002444741
RCV004539712
dbSNP Id:
rs750526692
ExAC:
X:32536144 T / G
gnomAD v2:
X-32536144-T-G
gnomAD v3:
X-32518027-T-G
gnomAD v4:
X-32518027-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32518027T>G , CM000685.2:g.32518027T>G | GRCh38 |
| NC_000023.10:g.32536144T>G , CM000685.1:g.32536144T>G | GRCh37 |
| NC_000023.9:g.32446065T>G | NCBI36 |
| NG_012232.1:g.826583A>C , LRG_199:g.826583A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.2480A>C | ||
| ENST00000683985.1:n.2480A>C | ||
| ENST00000288447.9:c.2249A>C | ENSP00000288447.4:p.Asp750Ala | |
| ENST00000357033.9:c.2273A>C MANE Select | ENSP00000354923.3:p.Asp758Ala | |
| ENST00000288447.8:c.2249A>C | ENSP00000288447.4:p.Asp750Ala | |
| ENST00000357033.8:c.2273A>C | ENSP00000354923.3:p.Asp758Ala | |
| ENST00000378677.6:c.2261A>C | ENSP00000367948.2:p.Asp754Ala | |
| ENST00000420596.5:c.94-152828A>C | ENSP00000399897.1:n.94-152828A>C | |
| ENST00000448370.5:c.94-153317A>C | ENSP00000388559.1:n.94-153317A>C | |
| ENST00000488902.5:n.336-300964A>C | ||
| ENST00000619831.4:c.2261A>C | ENSP00000479270.1:p.Asp754Ala | |
| ENST00000620040.4:c.2273A>C | ENSP00000478150.1:p.Asp758Ala | |
| NM_000109.3:c.2249A>C | NP_000100.2:p.Asp750Ala | |
| NM_004006.2:c.2273A>C , LRG_199t1:c.2273A>C | NP_003997.1:p.Asp758Ala | |
| NM_004009.3:c.2261A>C | NP_004000.1:p.Asp754Ala | |
| NM_004010.3:c.1904A>C | NP_004001.1:p.Asp635Ala | |
| XM_006724468.2:c.2273A>C | XP_006724531.1:p.Asp758Ala | |
| XM_006724469.2:c.2249A>C | XP_006724532.1:p.Asp750Ala | |
| XM_006724470.2:c.2273A>C | XP_006724533.1:p.Asp758Ala | |
| XM_006724471.2:c.2273A>C | XP_006724534.1:p.Asp758Ala | |
| XM_006724472.2:c.2144A>C | XP_006724535.1:p.Asp715Ala | |
| XM_006724473.2:c.2273A>C | XP_006724536.1:p.Asp758Ala | |
| XM_006724474.2:c.2273A>C | XP_006724537.1:p.Asp758Ala | |
| XM_006724475.2:c.2273A>C | XP_006724538.1:p.Asp758Ala | |
| XM_011545467.1:c.2273A>C | XP_011543769.1:p.Asp758Ala | |
| XM_011545468.1:c.2273A>C | XP_011543770.1:p.Asp758Ala | |
| XM_011545469.1:c.2273A>C | XP_011543771.1:p.Asp758Ala | |
| XM_006724469.3:c.2249A>C | XP_006724532.1:p.Asp750Ala | |
| XM_006724470.3:c.2273A>C | XP_006724533.1:p.Asp758Ala | |
| XM_006724474.3:c.2273A>C | XP_006724537.1:p.Asp758Ala | |
| XM_011545468.2:c.2273A>C | XP_011543770.1:p.Asp758Ala | |
| XM_017029328.1:c.2273A>C | XP_016884817.1:p.Asp758Ala | |
| XM_017029329.1:c.2273A>C | XP_016884818.1:p.Asp758Ala | |
| XM_017029330.2:c.2273A>C | XP_016884819.1:p.Asp758Ala | |
| NM_000109.4:c.2249A>C | NP_000100.3:p.Asp750Ala | |
| NM_004006.3:c.2273A>C MANE Select | NP_003997.2:p.Asp758Ala |