Linked Data
ClinVar Variation Id:
3009386
ClinVar RCV Id:
RCV003869537
dbSNP Id:
rs1574215326
gnomAD v4:
2-173358848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.173358848C>T , CM000664.2:g.173358848C>T | GRCh38 |
| NC_000002.11:g.174223576C>T , CM000664.1:g.174223576C>T | GRCh37 |
| NC_000002.10:g.173931822C>T | NCBI36 |
| NG_047202.1:g.9832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695901.1:c.147+11C>T | ENSP00000512251.1:n.147+11C>T | |
| ENST00000695912.1:c.144+11C>T | ENSP00000512263.1:n.144+11C>T | |
| ENST00000695913.1:c.147+11C>T | ENSP00000512264.1:n.147+11C>T | |
| ENST00000695914.1:c.144+11C>T | ENSP00000512265.1:n.144+11C>T | |
| ENST00000306721.8:c.147+11C>T MANE Select | ENSP00000306968.3:n.147+11C>T | |
| ENST00000306721.7:c.147+11C>T | ENSP00000306968.3:n.147+11C>T | |
| ENST00000347703.7:c.147+11C>T | ENSP00000272789.4:n.147+11C>T | |
| ENST00000410019.3:c.21+3864C>T | ENSP00000386833.3:n.21+3864C>T | |
| ENST00000410101.7:c.147+11C>T | ENSP00000386656.3:n.147+11C>T | |
| ENST00000435616.5:c.147+11C>T | ENSP00000390470.1:n.147+11C>T | |
| ENST00000467411.5:n.218+11C>T | ||
| ENST00000468359.1:n.331+11C>T | ||
| ENST00000496441.5:n.239+11C>T | ||
| NM_031942.4:c.147+11C>T | NP_114148.3:n.147+11C>T | |
| NM_145810.2:c.147+11C>T | NP_665809.1:n.147+11C>T | |
| XM_011511957.1:c.66+11C>T | XP_011510259.1:n.66+11C>T | |
| XR_923034.1:n.250+11C>T | ||
| NM_031942.5:c.147+11C>T MANE Select | NP_114148.3:n.147+11C>T | |
| NM_145810.3:c.147+11C>T | NP_665809.1:n.147+11C>T |