Linked Data
dbSNP Id:
rs370246056
ExAC:
3:49064328 A / C
gnomAD v2:
3-49064328-A-C
gnomAD v3:
3-49026895-A-C
gnomAD v4:
3-49026895-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026895A>C , CM000665.2:g.49026895A>C | GRCh38 |
| NC_000003.11:g.49064328A>C , CM000665.1:g.49064328A>C | GRCh37 |
| NC_000003.10:g.49039332A>C | NCBI36 |
| NG_012091.1:g.7548T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2660-9T>G | ENSP00000515567.1:n.2660-9T>G | |
| ENST00000703937.1:c.*1721-9T>G | ENSP00000515568.1:n.*1721-9T>G | |
| ENST00000326739.9:c.620-9T>G MANE Select | ENSP00000321584.4:n.620-9T>G | |
| ENST00000429182.6:c.620-9T>G | ENSP00000393525.2:n.620-9T>G | |
| ENST00000442157.2:c.545-9T>G | ENSP00000403502.2:n.545-9T>G | |
| ENST00000462980.2:n.1135-9T>G | ||
| ENST00000472328.2:n.686-9T>G | ||
| ENST00000491610.2:n.571T>G | ||
| ENST00000676607.1:n.916-9T>G | ||
| ENST00000676627.1:n.1350-9T>G | ||
| ENST00000676708.1:n.1891T>G | ||
| ENST00000676864.1:n.1760T>G | ||
| ENST00000677010.1:c.656-9T>G | ENSP00000503089.1:n.656-9T>G | |
| ENST00000677108.1:n.2517T>G | ||
| ENST00000677168.1:n.1092-9T>G | ||
| ENST00000677185.1:n.1174T>G | ||
| ENST00000677205.1:n.1395T>G | ||
| ENST00000677344.1:n.1885T>G | ||
| ENST00000677480.1:c.*297-9T>G | ENSP00000504378.1:n.*297-9T>G | |
| ENST00000677519.1:n.1330-9T>G | ||
| ENST00000677593.1:n.1167T>G | ||
| ENST00000677740.1:n.2116T>G | ||
| ENST00000677991.1:n.1793-9T>G | ||
| ENST00000678001.1:n.1113-9T>G | ||
| ENST00000678085.1:n.1167T>G | ||
| ENST00000678177.1:n.2460T>G | ||
| ENST00000678603.1:n.1698-9T>G | ||
| ENST00000678724.1:c.545-9T>G | ENSP00000503874.1:n.545-9T>G | |
| ENST00000678920.1:n.778-9T>G | ||
| ENST00000679019.1:n.1381T>G | ||
| ENST00000679117.1:c.*435-9T>G | ENSP00000503240.1:n.*435-9T>G | |
| ENST00000679339.1:n.1452T>G | ||
| ENST00000326739.8:c.620-9T>G | ENSP00000321584.4:n.620-9T>G | |
| ENST00000429182.5:c.414-9T>G | ||
| ENST00000442157.1:c.545-9T>G | ENSP00000403502.1:n.545-9T>G | |
| ENST00000462980.1:n.522-9T>G | ||
| ENST00000491610.1:n.571T>G | ||
| NM_000884.2:c.620-9T>G | NP_000875.2:n.620-9T>G | |
| XM_006713128.2:c.830-9T>G | XP_006713191.1:n.830-9T>G | |
| XM_006713128.3:c.830-9T>G | XP_006713191.1:n.830-9T>G | |
| XM_017006349.1:c.755-9T>G | XP_016861838.1:n.755-9T>G | |
| XM_017006350.1:c.755-9T>G | XP_016861839.1:n.755-9T>G | |
| NM_000884.3:c.620-9T>G MANE Select | NP_000875.2:n.620-9T>G |