Linked Data
ClinVar Variation Id:
403584
ClinVar RCV Id:
RCV000454745
dbSNP Id:
rs1052501
ExAC:
3:41925398 C / T
gnomAD v2:
3-41925398-C-T
gnomAD v3:
3-41883906-C-T
gnomAD v4:
3-41883906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.41883906C>T , CM000665.2:g.41883906C>T | GRCh38 |
| NC_000003.11:g.41925398C>T , CM000665.1:g.41925398C>T | GRCh37 |
| NC_000003.10:g.41900402C>T | NCBI36 |
| NG_051047.1:g.84115G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301831.9:c.1624G>A MANE Select | ENSP00000301831.4:p.Ala542Thr | |
| ENST00000301831.8:c.1624G>A | ENSP00000301831.4:p.Ala542Thr | |
| ENST00000420927.5:c.1624G>A | ENSP00000412187.1:p.Ala542Thr | |
| NM_017886.2:c.1624G>A | NP_060356.2:p.Ala542Thr | |
| XM_005265261.3:c.1621G>A | XP_005265318.1:p.Ala541Thr | |
| XM_006713215.2:c.1267G>A | XP_006713278.1:p.Ala423Thr | |
| XM_011533872.1:c.1624G>A | XP_011532174.1:p.Ala542Thr | |
| XM_011533873.1:c.1624G>A | XP_011532175.1:p.Ala542Thr | |
| XM_011533874.1:c.1624G>A | XP_011532176.1:p.Ala542Thr | |
| XM_011533875.1:c.1624G>A | XP_011532177.1:p.Ala542Thr | |
| XM_011533876.1:c.1624G>A | XP_011532178.1:p.Ala542Thr | |
| XM_011533877.1:c.835G>A | XP_011532179.1:p.Ala279Thr | |
| XM_011533878.1:c.1624G>A | XP_011532180.1:p.Ala542Thr | |
| XM_011533879.1:c.484G>A | XP_011532181.1:p.Ala162Thr | |
| XR_427279.2:n.2541G>A | ||
| NM_001322500.1:c.1624G>A | NP_001309429.1:p.Ala542Thr | |
| NM_001322501.1:c.718G>A | NP_001309430.1:p.Ala240Thr | |
| NM_017886.3:c.1624G>A | NP_060356.2:p.Ala542Thr | |
| NR_136342.1:n.2027G>A | ||
| NM_017886.4:c.1624G>A MANE Select | NP_060356.2:p.Ala542Thr | |
| NM_001322500.2:c.1624G>A | NP_001309429.1:p.Ala542Thr | |
| NM_001322501.2:c.718G>A | NP_001309430.1:p.Ala240Thr | |
| NR_136342.2:n.1690G>A |