Linked Data
ClinVar Variation Id:
406971
dbSNP Id:
rs373202723
ExAC:
8:145737847 A / T
gnomAD v2:
8-145737847-A-T
gnomAD v3:
8-144512464-A-T
gnomAD v4:
8-144512464-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144512464A>T , CM000670.2:g.144512464A>T | GRCh38 |
| NC_000008.10:g.145737847A>T , CM000670.1:g.145737847A>T | GRCh37 |
| NC_000008.9:g.145708655A>T | NCBI36 |
| NG_016430.1:g.10363T>A | |
| NG_016430.2:g.10363T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.2983T>A MANE Select | ENSP00000482313.2:p.Ser995Thr | |
| ENST00000301323.7:c.73-140T>A | ||
| ENST00000531875.2:c.229T>A | ENSP00000477910.1:p.Ser77Thr | |
| ENST00000534626.6:c.1154T>A | ||
| ENST00000617875.4:c.2983T>A | ENSP00000482313.1:p.Ser995Thr | |
| ENST00000621189.4:c.1912T>A | ENSP00000483145.1:p.Ser638Thr | |
| NM_004260.3:c.2983T>A | NP_004251.3:p.Ser995Thr | |
| XM_011517380.1:c.3058T>A | XP_011515682.1:p.Ser1020Thr | |
| XM_011517381.1:c.2962T>A | XP_011515683.1:p.Ser988Thr | |
| XM_011517382.1:c.2866T>A | XP_011515684.1:p.Ser956Thr | |
| XM_011517383.1:c.2860T>A | XP_011515685.1:p.Ser954Thr | |
| XM_011517384.1:c.2785T>A | XP_011515686.1:p.Ser929Thr | |
| XM_011517385.1:c.1921T>A | XP_011515687.1:p.Ser641Thr | |
| XR_928366.1:n.3099T>A | ||
| XR_928367.1:n.3099T>A | ||
| XR_928368.1:n.3004-140T>A | ||
| XM_011517384.3:c.2785T>A | XP_011515686.1:p.Ser929Thr | |
| XM_017013991.2:c.3148T>A | XP_016869480.1:p.Ser1050Thr | |
| XM_017013992.2:c.3073T>A | XP_016869481.1:p.Ser1025Thr | |
| XM_017013993.2:c.3058T>A | XP_016869482.1:p.Ser1020Thr | |
| XM_017013994.2:c.3052T>A | XP_016869483.1:p.Ser1018Thr | |
| XM_017013995.2:c.2983T>A | XP_016869484.1:p.Ser995Thr | |
| XM_017013996.2:c.3148T>A | XP_016869485.1:p.Ser1050Thr | |
| XM_017013997.2:c.2950T>A | XP_016869486.1:p.Ser984Thr | |
| XM_017013998.1:c.3073T>A | XP_016869487.1:p.Ser1025Thr | |
| XM_017013999.2:c.2860T>A | XP_016869488.1:p.Ser954Thr | |
| XM_017014000.1:c.2011T>A | XP_016869489.1:p.Ser671Thr | |
| XM_017014001.2:c.1921T>A | XP_016869490.1:p.Ser641Thr | |
| XR_001745626.2:n.3185T>A | ||
| XR_001745627.2:n.3185T>A | ||
| XR_001745628.2:n.3088-140T>A | ||
| XR_001745629.2:n.2878T>A | ||
| XR_001745630.2:n.2680T>A | ||
| NM_004260.4:c.2983T>A MANE Select | NP_004251.4:p.Ser995Thr |