Linked Data
ClinVar Variation Id:
372211
ClinVar RCV Id:
RCV000412614
dbSNP Id:
rs1057519081
PubMed:
PMID:27696117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74531106G>C , CM000664.2:g.74531106G>C | GRCh38 |
| NC_000002.11:g.74758233G>C , CM000664.1:g.74758233G>C | GRCh37 |
| NC_000002.10:g.74611741G>C | NCBI36 |
| NG_012163.1:g.6702G>C | |
| NG_033037.1:g.3742C>G | |
| NG_033047.1:g.27830C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000437202.2:c.906+1G>C | ENSP00000399166.2:n.906+1G>C | |
| ENST00000462909.6:n.656+1G>C | ||
| ENST00000465521.2:n.488G>C | ||
| ENST00000467961.6:n.640+1G>C | ||
| ENST00000484881.6:n.491+1G>C | ||
| ENST00000696725.1:n.789+1G>C | ||
| ENST00000696726.1:n.534+1G>C | ||
| ENST00000696727.1:c.906+1G>C | ENSP00000512836.1:n.906+1G>C | |
| ENST00000696728.1:c.906+1G>C | ENSP00000512837.1:n.906+1G>C | |
| ENST00000696729.1:n.512G>C | ||
| ENST00000696730.1:n.494G>C | ||
| ENST00000696731.1:n.368G>C | ||
| ENST00000258080.8:c.906+1G>C MANE Select | ENSP00000258080.3:n.906+1G>C | |
| ENST00000258080.7:c.906+1G>C | ENSP00000258080.3:n.906+1G>C | |
| ENST00000352222.7:c.712-233G>C | ENSP00000312893.3:n.712-233G>C | |
| ENST00000437202.1:c.867+1G>C | ENSP00000399166.1:n.867+1G>C | |
| ENST00000462909.5:n.656+1G>C | ||
| ENST00000465521.1:n.488G>C | ||
| ENST00000467961.5:n.590+1G>C | ||
| ENST00000482205.1:n.421G>C | ||
| ENST00000482331.1:n.406+1G>C | ||
| ENST00000484352.5:n.744+1G>C | ||
| ENST00000484881.5:n.491+1G>C | ||
| NM_013247.4:c.906+1G>C | NP_037379.1:n.906+1G>C | |
| NM_145074.2:c.712-233G>C | NP_659540.1:n.712-233G>C | |
| XM_005264266.2:c.906+1G>C | XP_005264323.1:n.906+1G>C | |
| NM_001321727.1:c.906+1G>C | NP_001308656.1:n.906+1G>C | |
| NM_001321728.1:c.906+1G>C | NP_001308657.1:n.906+1G>C | |
| NR_135769.1:n.1508+1G>C | ||
| NR_135770.1:n.976+1G>C | ||
| NR_135771.1:n.960+1G>C | ||
| NR_135772.1:n.980+1G>C | ||
| NM_013247.5:c.906+1G>C MANE Select | NP_037379.1:n.906+1G>C |