Linked Data
ClinVar Variation Id:
208386
ClinVar RCV Id:
RCV000202342
dbSNP Id:
rs863223348
gnomAD v2:
12-89917133-G-A
gnomAD v4:
12-89523356-G-A
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89523356G>A , CM000674.2:g.89523356G>A | GRCh38 |
| NC_000012.11:g.89917133G>A , CM000674.1:g.89917133G>A | GRCh37 |
| NC_000012.10:g.88441264G>A | NCBI36 |
| NG_041783.1:g.7907C>T | |
| NG_050753.1:g.6451C>T | |
| NG_054725.1:g.7907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313546.8:c.100+1764C>T (POC1B) MANE Select | ENSP00000323302.3:n.100+1764C>T | |
| ENST00000529983.3:c.1194C>T (GALNT4) MANE Select | ENSP00000436604.2:p.Asn398= | |
| ENST00000313546.7:c.100+1764C>T (POC1B) | ENSP00000323302.3:n.100+1764C>T | |
| ENST00000393179.8:c.-119+1764C>T (POC1B) | ENSP00000376877.4:n.-119+1764C>T | |
| ENST00000529983.2:c.1194C>T (GALNT4) | ENSP00000436604.2:p.Asn398= | |
| ENST00000539190.6:n.198+1764C>T (POC1B) | ||
| ENST00000546830.1:c.100+1764C>T (POC1B) | ENSP00000449256.1:n.100+1764C>T | |
| ENST00000547274.5:c.100+1764C>T (POC1B) | ENSP00000449648.1:n.100+1764C>T | |
| ENST00000547474.1:c.*289C>T (POC1B-GALNT4) | ENSP00000447754.1:n.*289C>T | |
| ENST00000547496.5:c.100+1764C>T (POC1B) | ENSP00000447437.1:n.100+1764C>T | |
| ENST00000548715.5:c.100+1764C>T (POC1B) | ENSP00000449945.1:n.100+1764C>T | |
| ENST00000548729.5:c.1185C>T (POC1B-GALNT4) | ENSP00000447852.1:p.Asn395= | |
| ENST00000549035.1:c.-27+1764C>T (POC1B) | ENSP00000447916.1:n.-27+1764C>T | |
| ENST00000549504.1:c.-119+1764C>T (POC1B) | ENSP00000450118.1:n.-119+1764C>T | |
| ENST00000552563.1:n.296+1764C>T (POC1B) | ||
| NM_001199777.1:c.-27+1764C>T (POC1B) | NP_001186706.1:n.-27+1764C>T | |
| NM_001199781.1:c.1185C>T (POC1B-GALNT4) | NP_001186710.1:p.Asn395= | |
| NM_001199782.1:c.678C>T (POC1B-GALNT4) | NP_001186711.1:p.Asn226= | |
| NM_003774.4:c.1194C>T (GALNT4) | NP_003765.2:p.Asn398= | |
| NM_172240.2:c.100+1764C>T (POC1B) | NP_758440.1:n.100+1764C>T | |
| NR_037659.1:n.467+1764C>T (POC1B) | ||
| NR_037660.1:n.448+1764C>T (POC1B) | ||
| NM_003774.5:c.1194C>T (GALNT4) MANE Select | NP_003765.2:p.Asn398= | |
| NM_172240.3:c.100+1764C>T (POC1B) MANE Select | NP_758440.1:n.100+1764C>T | |
| NM_001199777.2:c.-27+1764C>T (POC1B) | NP_001186706.1:n.-27+1764C>T | |
| NM_001199781.2:c.1185C>T (POC1B-GALNT4) | NP_001186710.1:p.Asn395= | |
| NR_037659.2:n.252+1764C>T (POC1B) | ||
| NR_037660.2:n.311+1764C>T (POC1B) |