Linked Data
ClinVar Variation Id:
2637382
ClinVar RCV Id:
RCV003404696
dbSNP Id:
rs1434385525
gnomAD v2:
17-16852299-T-C
gnomAD v4:
17-16948985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948985T>C , CM000679.2:g.16948985T>C | GRCh38 |
| NC_000017.10:g.16852299T>C , CM000679.1:g.16852299T>C | GRCh37 |
| NC_000017.9:g.16793024T>C | NCBI36 |
| NG_007281.1:g.28104A>G , LRG_120:g.28104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.200-2A>G MANE Select | ENSP00000261652.2:n.200-2A>G | |
| ENST00000261652.6:c.200-2A>G | ENSP00000261652.2:n.200-2A>G | |
| ENST00000579315.5:c.200-2A>G | ENSP00000464069.1:n.200-2A>G | |
| ENST00000581616.2:n.203-2A>G | ||
| ENST00000582931.5:n.104-2A>G | ||
| ENST00000583789.1:c.62-2A>G | ENSP00000462952.1:n.62-2A>G | |
| ENST00000584950.5:c.62-2A>G | ENSP00000463582.1:n.62-2A>G | |
| NM_012452.2:c.200-2A>G , LRG_120t1:c.200-2A>G | NP_036584.1:n.200-2A>G | |
| NM_012452.3:c.200-2A>G MANE Select | NP_036584.1:n.200-2A>G |