Linked Data
ClinVar Variation Id:
194740
dbSNP Id:
rs367769606
ExAC:
X:32563405 G / T
gnomAD v2:
X-32563405-G-T
gnomAD v3:
X-32545288-G-T
gnomAD v4:
X-32545288-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32545288G>T , CM000685.2:g.32545288G>T | GRCh38 |
| NC_000023.10:g.32563405G>T , CM000685.1:g.32563405G>T | GRCh37 |
| NC_000023.9:g.32473326G>T | NCBI36 |
| NG_012232.1:g.799322C>A , LRG_199:g.799322C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.2246C>A | ||
| ENST00000683985.1:n.2246C>A | ||
| ENST00000288447.9:c.2015C>A | ENSP00000288447.4:p.Thr672Asn | |
| ENST00000357033.9:c.2039C>A MANE Select | ENSP00000354923.3:p.Thr680Asn | |
| ENST00000288447.8:c.2015C>A | ENSP00000288447.4:p.Thr672Asn | |
| ENST00000357033.8:c.2039C>A | ENSP00000354923.3:p.Thr680Asn | |
| ENST00000378677.6:c.2027C>A | ENSP00000367948.2:p.Thr676Asn | |
| ENST00000420596.5:c.94-180089C>A | ENSP00000399897.1:n.94-180089C>A | |
| ENST00000448370.5:c.94-180578C>A | ENSP00000388559.1:n.94-180578C>A | |
| ENST00000488902.5:n.336-328225C>A | ||
| ENST00000619831.4:c.2027C>A | ENSP00000479270.1:p.Thr676Asn | |
| ENST00000620040.4:c.2039C>A | ENSP00000478150.1:p.Thr680Asn | |
| NM_000109.3:c.2015C>A | NP_000100.2:p.Thr672Asn | |
| NM_004006.2:c.2039C>A , LRG_199t1:c.2039C>A | NP_003997.1:p.Thr680Asn | |
| NM_004009.3:c.2027C>A | NP_004000.1:p.Thr676Asn | |
| NM_004010.3:c.1670C>A | NP_004001.1:p.Thr557Asn | |
| XM_006724468.2:c.2039C>A | XP_006724531.1:p.Thr680Asn | |
| XM_006724469.2:c.2015C>A | XP_006724532.1:p.Thr672Asn | |
| XM_006724470.2:c.2039C>A | XP_006724533.1:p.Thr680Asn | |
| XM_006724471.2:c.2039C>A | XP_006724534.1:p.Thr680Asn | |
| XM_006724472.2:c.1910C>A | XP_006724535.1:p.Thr637Asn | |
| XM_006724473.2:c.2039C>A | XP_006724536.1:p.Thr680Asn | |
| XM_006724474.2:c.2039C>A | XP_006724537.1:p.Thr680Asn | |
| XM_006724475.2:c.2039C>A | XP_006724538.1:p.Thr680Asn | |
| XM_011545467.1:c.2039C>A | XP_011543769.1:p.Thr680Asn | |
| XM_011545468.1:c.2039C>A | XP_011543770.1:p.Thr680Asn | |
| XM_011545469.1:c.2039C>A | XP_011543771.1:p.Thr680Asn | |
| XM_006724469.3:c.2015C>A | XP_006724532.1:p.Thr672Asn | |
| XM_006724470.3:c.2039C>A | XP_006724533.1:p.Thr680Asn | |
| XM_006724474.3:c.2039C>A | XP_006724537.1:p.Thr680Asn | |
| XM_011545468.2:c.2039C>A | XP_011543770.1:p.Thr680Asn | |
| XM_017029328.1:c.2039C>A | XP_016884817.1:p.Thr680Asn | |
| XM_017029329.1:c.2039C>A | XP_016884818.1:p.Thr680Asn | |
| XM_017029330.2:c.2039C>A | XP_016884819.1:p.Thr680Asn | |
| NM_000109.4:c.2015C>A | NP_000100.3:p.Thr672Asn | |
| NM_004006.3:c.2039C>A MANE Select | NP_003997.2:p.Thr680Asn |