Linked Data
ClinVar Variation Id:
392273
ClinVar RCV Id:
RCV002525488
dbSNP Id:
rs145863194
ExAC:
17:44109450 G / A
gnomAD v2:
17-44109450-G-A
gnomAD v3:
17-46032084-G-A
gnomAD v4:
17-46032084-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46032084G>A , CM000679.2:g.46032084G>A | GRCh38 |
| NC_000017.10:g.44109450G>A , CM000679.1:g.44109450G>A | GRCh37 |
| NC_000017.9:g.41465297G>A | NCBI36 |
| NG_032784.1:g.198291C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432791.7:c.3053C>T MANE Select | ENSP00000387393.3:p.Thr1018Ile | |
| ENST00000572904.6:c.3053C>T | ENSP00000461484.1:p.Thr1018Ile | |
| ENST00000574590.6:c.3050C>T | ENSP00000461812.2:p.Thr1017Ile | |
| ENST00000575318.6:c.2861C>T | ENSP00000461299.1:p.Thr954Ile | |
| ENST00000638275.1:c.2861C>T | ENSP00000492576.1:p.Thr954Ile | |
| ENST00000639805.1:n.470C>T | ||
| ENST00000648792.1:c.2921C>T | ENSP00000497628.1:p.Thr974Ile | |
| ENST00000262419.10:c.3053C>T | ENSP00000262419.6:p.Thr1018Ile | |
| ENST00000432791.5:c.3050C>T | ENSP00000387393.2:p.Thr1017Ile | |
| ENST00000572218.5:n.7270C>T | ||
| ENST00000572904.5:c.3053C>T | ENSP00000461484.1:p.Thr1018Ile | |
| ENST00000574590.5:c.3053C>T | ENSP00000461812.1:p.Thr1018Ile | |
| ENST00000574963.1:n.483C>T | ||
| ENST00000575318.5:c.2861C>T | ENSP00000461299.1:p.Thr954Ile | |
| ENST00000576870.5:n.1025C>T | ||
| NM_001193465.1:c.3050C>T | NP_001180394.1:p.Thr1017Ile | |
| NM_001193466.1:c.3053C>T | NP_001180395.1:p.Thr1018Ile | |
| NM_015443.3:c.3053C>T | NP_056258.1:p.Thr1018Ile | |
| XM_006721823.1:c.3053C>T | XP_006721886.1:p.Thr1018Ile | |
| XM_006721824.2:c.3053C>T | XP_006721887.1:p.Thr1018Ile | |
| XM_011524628.1:c.3050C>T | XP_011522930.1:p.Thr1017Ile | |
| XM_011524629.1:c.2951C>T | XP_011522931.1:p.Thr984Ile | |
| XM_011524630.1:c.2864C>T | XP_011522932.1:p.Thr955Ile | |
| XM_011524631.1:c.2861C>T | XP_011522933.1:p.Thr954Ile | |
| XM_011524632.1:c.1823C>T | XP_011522934.1:p.Thr608Ile | |
| XM_006721823.2:c.3053C>T | XP_006721886.1:p.Thr1018Ile | |
| XM_006721824.4:c.3053C>T | XP_006721887.1:p.Thr1018Ile | |
| XM_011524628.3:c.3050C>T | XP_011522930.1:p.Thr1017Ile | |
| XM_011524629.3:c.2951C>T | XP_011522931.1:p.Thr984Ile | |
| XM_011524630.3:c.2864C>T | XP_011522932.1:p.Thr955Ile | |
| XM_011524631.3:c.2861C>T | XP_011522933.1:p.Thr954Ile | |
| XM_011524632.3:c.1823C>T | XP_011522934.1:p.Thr608Ile | |
| XM_017024488.2:c.2861C>T | XP_016879977.1:p.Thr954Ile | |
| NM_001193466.2:c.3053C>T | NP_001180395.1:p.Thr1018Ile | |
| NM_015443.4:c.3053C>T MANE Select | NP_056258.1:p.Thr1018Ile | |
| NM_001193465.2:c.3050C>T | NP_001180394.1:p.Thr1017Ile | |
| NM_001379198.1:c.3053C>T | NP_001366127.1:p.Thr1018Ile |