Linked Data
ClinVar Variation Id:
1595003
ClinVar RCV Id:
RCV002108249
dbSNP Id:
rs747302057
ExAC:
1:154437622 G / A
gnomAD v2:
1-154437622-G-A
gnomAD v3:
1-154465146-G-A
gnomAD v4:
1-154465146-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154465146G>A , CM000663.2:g.154465146G>A | GRCh38 |
| NC_000001.10:g.154437622G>A , CM000663.1:g.154437622G>A | GRCh37 |
| NC_000001.9:g.152704246G>A | NCBI36 |
| NG_012087.1:g.64954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368485.8:c.1173G>A MANE Select | ENSP00000357470.3:p.Thr391= | |
| ENST00000344086.8:c.1079G>A | ENSP00000340589.4:p.Arg360His | |
| ENST00000368485.7:c.1173G>A | ENSP00000357470.3:p.Thr391= | |
| ENST00000502679.1:n.486G>A | ||
| ENST00000507256.1:n.371G>A | ||
| NM_000565.3:c.1173G>A | NP_000556.1:p.Thr391= | |
| NM_181359.2:c.1079G>A | NP_852004.1:p.Arg360His | |
| XM_005245139.1:c.937G>A | XP_005245196.1:p.Val313Met | |
| XM_005245140.1:c.*14G>A | XP_005245197.1:n.*14G>A | |
| XM_006711298.1:c.1221G>A | XP_006711361.1:p.Thr407= | |
| XM_006711299.2:c.1127G>A | XP_006711362.1:p.Arg376His | |
| XM_005245139.2:c.937G>A | XP_005245196.1:p.Val313Met | |
| XM_005245140.3:c.*14G>A | XP_005245197.1:n.*14G>A | |
| XM_006711298.2:c.1221G>A | XP_006711361.1:p.Thr407= | |
| XM_006711299.4:c.1127G>A | XP_006711362.1:p.Arg376His | |
| XM_017001199.2:c.1320G>A | XP_016856688.1:p.Thr440= | |
| XM_017001200.2:c.1272G>A | XP_016856689.1:p.Thr424= | |
| XM_017001201.2:c.*14G>A | XP_016856690.1:n.*14G>A | |
| NM_000565.4:c.1173G>A MANE Select | NP_000556.1:p.Thr391= | |
| NM_181359.3:c.1079G>A | NP_852004.1:p.Arg360His | |
| NM_001382769.1:c.1272G>A | NP_001369698.1:p.Thr424= | |
| NM_001382770.1:c.1266G>A | NP_001369699.1:p.Thr422= | |
| NM_001382771.1:c.1221G>A | NP_001369700.1:p.Thr407= | |
| NM_001382772.1:c.1167G>A | NP_001369701.1:p.Thr389= | |
| NM_001382773.1:c.1127G>A | NP_001369702.1:p.Arg376His | |
| NM_001382774.1:c.813G>A | NP_001369703.1:p.Thr271= |