Linked Data
ClinVar Variation Id:
475426
dbSNP Id:
rs117101415
ExAC:
12:57883741 C / T
gnomAD v2:
12-57883741-C-T
gnomAD v3:
12-57489958-C-T
gnomAD v4:
12-57489958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57489958C>T , CM000674.2:g.57489958C>T | GRCh38 |
| NC_000012.11:g.57883741C>T , CM000674.1:g.57883741C>T | GRCh37 |
| NC_000012.10:g.56170008C>T | NCBI36 |
| NG_034077.1:g.7006C>T | |
| NG_023205.2:g.3857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262027.10:c.477C>T MANE Select | ENSP00000262027.5:p.Pro159= | |
| ENST00000262027.9:c.477C>T | ENSP00000262027.5:p.Pro159= | |
| ENST00000447721.6:n.133-249C>T | ||
| ENST00000537638.6:c.477C>T | ENSP00000446168.2:p.Pro159= | |
| ENST00000545888.6:c.415-249C>T | ENSP00000439307.2:n.415-249C>T | |
| ENST00000547501.5:c.*113C>T | ENSP00000447145.1:n.*113C>T | |
| ENST00000548674.5:n.385-249C>T | ||
| ENST00000549074.5:c.201-249C>T | ENSP00000447258.1:n.201-249C>T | |
| ENST00000550449.5:n.590C>T | ||
| ENST00000551431.5:c.280-249C>T | ENSP00000446729.1:n.280-249C>T | |
| ENST00000551892.1:c.110-320C>T | ENSP00000450018.1:n.110-320C>T | |
| ENST00000552007.5:c.*47C>T | ENSP00000448576.1:n.*47C>T | |
| ENST00000552371.1:c.92C>T | ||
| ENST00000553123.1:n.701C>T | ||
| ENST00000553162.5:n.500C>T | ||
| ENST00000628866.2:c.280-249C>T | ENSP00000486738.1:n.280-249C>T | |
| ENST00000630803.1:c.110-320C>T | ENSP00000486356.1:n.110-320C>T | |
| NM_004990.3:c.477C>T | NP_004981.2:p.Pro159= | |
| XM_006719398.2:c.-212-249C>T | XP_006719461.1:n.-212-249C>T | |
| XM_011538353.1:c.477C>T | XP_011536655.1:p.Pro159= | |
| XM_006719398.4:c.-212-249C>T | XP_006719461.1:n.-212-249C>T | |
| XR_001748704.2:n.500C>T | ||
| XR_002957327.1:n.438-249C>T | ||
| NM_004990.4:c.477C>T MANE Select | NP_004981.2:p.Pro159= |