Linked Data
ClinVar Variation Id:
155748
ClinVar RCV Id:
RCV000143819
RCV000302102
RCV000393538
RCV000251546
RCV001080640
RCV001260210
RCV001847770
dbSNP Id:
rs151117904
ExAC:
9:135140020 A / G
gnomAD v2:
9-135140020-A-G
gnomAD v3:
9-132264633-A-G
gnomAD v4:
9-132264633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132264633A>G , CM000671.2:g.132264633A>G | GRCh38 |
| NC_000009.11:g.135140020A>G , CM000671.1:g.135140020A>G | GRCh37 |
| NC_000009.10:g.134129841A>G | NCBI36 |
| NG_007946.1:g.95353T>C , LRG_268:g.95353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.7640T>C MANE Select | ENSP00000224140.5:p.Ile2547Thr | |
| ENST00000224140.5:c.7640T>C | ENSP00000224140.5:p.Ile2547Thr | |
| ENST00000436441.5:c.2453T>C | ENSP00000409143.1:p.Ile818Thr | |
| ENST00000477049.1:n.790T>C | ||
| NM_015046.5:c.7640T>C , LRG_268t1:c.7640T>C | NP_055861.3:p.Ile2547Thr | |
| XM_005272171.1:c.7727T>C | XP_005272228.1:p.Ile2576Thr | |
| XM_005272172.1:c.7727T>C | XP_005272229.1:p.Ile2576Thr | |
| XM_005272173.1:c.7727T>C | XP_005272230.1:p.Ile2576Thr | |
| XM_011518404.1:c.7727T>C | XP_011516706.1:p.Ile2576Thr | |
| XM_011518405.1:c.7727T>C | XP_011516707.1:p.Ile2576Thr | |
| XR_929739.1:n.7556T>C | ||
| NM_001351527.1:c.7640T>C | NP_001338456.1:p.Ile2547Thr | |
| NM_001351528.1:c.7727T>C | NP_001338457.1:p.Ile2576Thr | |
| NM_015046.6:c.7640T>C | NP_055861.3:p.Ile2547Thr | |
| XM_005272172.3:c.7727T>C | XP_005272229.1:p.Ile2576Thr | |
| XM_005272173.3:c.7727T>C | XP_005272230.1:p.Ile2576Thr | |
| XM_011518404.3:c.7727T>C | XP_011516706.1:p.Ile2576Thr | |
| XM_011518405.3:c.7727T>C | XP_011516707.1:p.Ile2576Thr | |
| XM_017014496.1:c.2180T>C | XP_016869985.1:p.Ile727Thr | |
| XR_001746251.1:n.7195T>C | ||
| XR_929739.2:n.7556T>C | ||
| NM_015046.7:c.7640T>C MANE Select | NP_055861.3:p.Ile2547Thr | |
| NM_001351528.2:c.7727T>C | NP_001338457.1:p.Ile2576Thr | |
| NM_001351527.2:c.7640T>C | NP_001338456.1:p.Ile2547Thr |