Linked Data
ClinVar Variation Id:
196374
dbSNP Id:
rs373907950
ExAC:
X:32867940 G / A
gnomAD v2:
X-32867940-G-A
gnomAD v3:
X-32849823-G-A
gnomAD v4:
X-32849823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32849823G>A , CM000685.2:g.32849823G>A | GRCh38 |
| NC_000023.10:g.32867940G>A , CM000685.1:g.32867940G>A | GRCh37 |
| NC_000023.9:g.32777861G>A | NCBI36 |
| NG_012232.1:g.494787C>T , LRG_199:g.494787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682071.1:c.-276-3C>T | ENSP00000508133.1:n.-276-3C>T | |
| ENST00000682437.1:n.418-3C>T | ||
| ENST00000682584.1:n.418-3C>T | ||
| ENST00000682870.1:n.279-3C>T | ||
| ENST00000682899.1:n.301-3C>T | ||
| ENST00000682924.1:c.94-3C>T | ENSP00000508187.1:n.94-3C>T | |
| ENST00000683309.1:n.278-3C>T | ||
| ENST00000683658.1:n.439-3C>T | ||
| ENST00000683985.1:n.301-3C>T | ||
| ENST00000684056.1:n.278-3C>T | ||
| ENST00000684165.1:n.301-3C>T | ||
| ENST00000684237.1:c.94-3C>T | ENSP00000507277.1:n.94-3C>T | |
| ENST00000684292.1:n.301-3C>T | ||
| ENST00000684357.1:n.278-3C>T | ||
| ENST00000684660.1:n.279-3C>T | ||
| ENST00000288447.9:c.70-3C>T | ENSP00000288447.4:n.70-3C>T | |
| ENST00000357033.9:c.94-3C>T MANE Select | ENSP00000354923.3:n.94-3C>T | |
| ENST00000288447.8:c.70-3C>T | ENSP00000288447.4:n.70-3C>T | |
| ENST00000357033.8:c.94-3C>T | ENSP00000354923.3:n.94-3C>T | |
| ENST00000378677.6:c.82-3C>T | ENSP00000367948.2:n.82-3C>T | |
| ENST00000420596.5:c.93+170316C>T | ENSP00000399897.1:n.93+170316C>T | |
| ENST00000448370.5:c.93+170316C>T | ENSP00000388559.1:n.93+170316C>T | |
| ENST00000472681.1:n.279-3C>T | ||
| ENST00000488902.5:n.335+170316C>T | ||
| ENST00000619831.4:c.82-3C>T | ENSP00000479270.1:n.82-3C>T | |
| ENST00000620040.4:c.94-3C>T | ENSP00000478150.1:n.94-3C>T | |
| NM_000109.3:c.70-3C>T | NP_000100.2:n.70-3C>T | |
| NM_004006.2:c.94-3C>T , LRG_199t1:c.94-3C>T | NP_003997.1:n.94-3C>T | |
| NM_004009.3:c.82-3C>T | NP_004000.1:n.82-3C>T | |
| NM_004010.3:c.-276-3C>T | NP_004001.1:n.-276-3C>T | |
| XM_006724468.2:c.94-3C>T | XP_006724531.1:n.94-3C>T | |
| XM_006724469.2:c.70-3C>T | XP_006724532.1:n.70-3C>T | |
| XM_006724470.2:c.94-3C>T | XP_006724533.1:n.94-3C>T | |
| XM_006724471.2:c.94-3C>T | XP_006724534.1:n.94-3C>T | |
| XM_006724472.2:c.94-3C>T | XP_006724535.1:n.94-3C>T | |
| XM_006724473.2:c.94-3C>T | XP_006724536.1:n.94-3C>T | |
| XM_006724474.2:c.94-3C>T | XP_006724537.1:n.94-3C>T | |
| XM_006724475.2:c.94-3C>T | XP_006724538.1:n.94-3C>T | |
| XM_011545467.1:c.94-3C>T | XP_011543769.1:n.94-3C>T | |
| XM_011545468.1:c.94-3C>T | XP_011543770.1:n.94-3C>T | |
| XM_011545469.1:c.94-3C>T | XP_011543771.1:n.94-3C>T | |
| XM_006724469.3:c.70-3C>T | XP_006724532.1:n.70-3C>T | |
| XM_006724470.3:c.94-3C>T | XP_006724533.1:n.94-3C>T | |
| XM_006724474.3:c.94-3C>T | XP_006724537.1:n.94-3C>T | |
| XM_011545468.2:c.94-3C>T | XP_011543770.1:n.94-3C>T | |
| XM_017029328.1:c.94-3C>T | XP_016884817.1:n.94-3C>T | |
| XM_017029329.1:c.94-3C>T | XP_016884818.1:n.94-3C>T | |
| XM_017029330.2:c.94-3C>T | XP_016884819.1:n.94-3C>T | |
| NM_000109.4:c.70-3C>T | NP_000100.3:n.70-3C>T | |
| NM_004006.3:c.94-3C>T MANE Select | NP_003997.2:n.94-3C>T |