Linked Data
dbSNP Id:
rs1051130124
gnomAD v2:
17-61554984-G-C
gnomAD v3:
17-63477623-G-C
gnomAD v4:
17-63477623-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63477623G>C , CM000679.2:g.63477623G>C | GRCh38 |
| NC_000017.10:g.61554984G>C , CM000679.1:g.61554984G>C | GRCh37 |
| NC_000017.9:g.58908716G>C | NCBI36 |
| NG_011648.1:g.5551G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.249+280G>C MANE Select | ENSP00000290866.4:n.249+280G>C | |
| ENST00000290866.9:c.249+280G>C | ENSP00000290866.4:n.249+280G>C | |
| ENST00000428043.5:c.249+280G>C | ENSP00000397593.2:n.249+280G>C | |
| ENST00000579462.1:n.274+280G>C | ||
| ENST00000580318.1:n.131G>C | ||
| ENST00000582627.1:c.82G>C | ENSP00000462280.1:p.Gly28Arg | |
| ENST00000582678.5:c.249+280G>C | ENSP00000462995.1:n.249+280G>C | |
| ENST00000583336.5:n.283+280G>C | ||
| ENST00000584529.5:n.283+280G>C | ||
| NM_000789.3:c.249+280G>C | NP_000780.1:n.249+280G>C | |
| XM_005257110.1:c.-207+280G>C | XP_005257167.1:n.-207+280G>C | |
| NM_000789.4:c.249+280G>C MANE Select | NP_000780.1:n.249+280G>C | |
| NM_001382700.1:c.14+280G>C | NP_001369629.1:n.14+280G>C | |
| NM_001382701.1:c.-366+280G>C | NP_001369630.1:n.-366+280G>C |