Linked Data
ClinVar Variation Id:
337131
ClinVar RCV Id:
RCV000337825
dbSNP Id:
rs151291127
ExAC:
2:74757735 C / A
gnomAD v2:
2-74757735-C-A
gnomAD v3:
2-74530608-C-A
gnomAD v4:
2-74530608-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74530608C>A , CM000664.2:g.74530608C>A | GRCh38 |
| NC_000002.11:g.74757735C>A , CM000664.1:g.74757735C>A | GRCh37 |
| NC_000002.10:g.74611243C>A | NCBI36 |
| NG_012163.1:g.6204C>A | |
| NG_033037.1:g.4240G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437202.2:c.507-9C>A | ENSP00000399166.2:n.507-9C>A | |
| ENST00000462909.6:n.257-9C>A | ||
| ENST00000465521.2:n.88-9C>A | ||
| ENST00000467961.6:n.241-9C>A | ||
| ENST00000484881.6:n.92-9C>A | ||
| ENST00000696725.1:n.390-9C>A | ||
| ENST00000696726.1:n.135-9C>A | ||
| ENST00000696727.1:c.507-9C>A | ENSP00000512836.1:n.507-9C>A | |
| ENST00000696728.1:c.507-9C>A | ENSP00000512837.1:n.507-9C>A | |
| ENST00000696729.1:n.112-9C>A | ||
| ENST00000696730.1:n.94-9C>A | ||
| ENST00000258080.8:c.507-9C>A MANE Select | ENSP00000258080.3:n.507-9C>A | |
| ENST00000258080.7:c.507-9C>A | ENSP00000258080.3:n.507-9C>A | |
| ENST00000352222.7:c.507-9C>A | ENSP00000312893.3:n.507-9C>A | |
| ENST00000437202.1:c.468-9C>A | ENSP00000399166.1:n.468-9C>A | |
| ENST00000462909.5:n.257-9C>A | ||
| ENST00000465521.1:n.88-9C>A | ||
| ENST00000467961.5:n.191-9C>A | ||
| ENST00000482205.1:n.12C>A | ||
| ENST00000484352.5:n.345-9C>A | ||
| ENST00000484881.5:n.92-9C>A | ||
| NM_013247.4:c.507-9C>A | NP_037379.1:n.507-9C>A | |
| NM_145074.2:c.507-9C>A | NP_659540.1:n.507-9C>A | |
| XM_005264266.2:c.507-9C>A | XP_005264323.1:n.507-9C>A | |
| NM_001321727.1:c.507-9C>A | NP_001308656.1:n.507-9C>A | |
| NM_001321728.1:c.507-9C>A | NP_001308657.1:n.507-9C>A | |
| NR_135769.1:n.1109-9C>A | ||
| NR_135770.1:n.577-9C>A | ||
| NR_135771.1:n.561-9C>A | ||
| NR_135772.1:n.581-9C>A | ||
| NM_013247.5:c.507-9C>A MANE Select | NP_037379.1:n.507-9C>A |