Linked Data
dbSNP Id:
rs775268261
ExAC:
3:49064061 C / T
gnomAD v2:
3-49064061-C-T
gnomAD v4:
3-49026628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026628C>T , CM000665.2:g.49026628C>T | GRCh38 |
| NC_000003.11:g.49064061C>T , CM000665.1:g.49064061C>T | GRCh37 |
| NC_000003.10:g.49039065C>T | NCBI36 |
| NG_012091.1:g.7815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703936.1:c.2860-19G>A | ENSP00000515567.1:n.2860-19G>A | |
| ENST00000703937.1:c.*1921-19G>A | ENSP00000515568.1:n.*1921-19G>A | |
| ENST00000326739.9:c.820-19G>A MANE Select | ENSP00000321584.4:n.820-19G>A | |
| ENST00000429182.6:c.820-19G>A | ENSP00000393525.2:n.820-19G>A | |
| ENST00000442157.2:c.745-19G>A | ENSP00000403502.2:n.745-19G>A | |
| ENST00000462980.2:n.1335-19G>A | ||
| ENST00000472328.2:n.886-19G>A | ||
| ENST00000491610.2:n.780-19G>A | ||
| ENST00000676607.1:n.1116-19G>A | ||
| ENST00000676627.1:n.1550-19G>A | ||
| ENST00000676708.1:n.2100-19G>A | ||
| ENST00000676864.1:n.1969-19G>A | ||
| ENST00000677010.1:c.856-31G>A | ENSP00000503089.1:n.856-31G>A | |
| ENST00000677108.1:n.2784G>A | ||
| ENST00000677168.1:n.1292-19G>A | ||
| ENST00000677185.1:n.1383-19G>A | ||
| ENST00000677205.1:n.1604-19G>A | ||
| ENST00000677344.1:n.2094-19G>A | ||
| ENST00000677480.1:c.*497-19G>A | ENSP00000504378.1:n.*497-19G>A | |
| ENST00000677519.1:n.1530-19G>A | ||
| ENST00000677593.1:n.1376-19G>A | ||
| ENST00000677740.1:n.2325-19G>A | ||
| ENST00000677991.1:n.1993-19G>A | ||
| ENST00000678001.1:n.1313-19G>A | ||
| ENST00000678085.1:n.1434G>A | ||
| ENST00000678177.1:n.2727G>A | ||
| ENST00000678603.1:n.1898-19G>A | ||
| ENST00000678724.1:c.745-19G>A | ENSP00000503874.1:n.745-19G>A | |
| ENST00000678920.1:n.978-19G>A | ||
| ENST00000679019.1:n.1648G>A | ||
| ENST00000679117.1:c.*635-19G>A | ENSP00000503240.1:n.*635-19G>A | |
| ENST00000679339.1:n.1661-19G>A | ||
| ENST00000326739.8:c.820-19G>A | ENSP00000321584.4:n.820-19G>A | |
| ENST00000429182.5:c.614-19G>A | ||
| ENST00000442157.1:c.745-19G>A | ENSP00000403502.1:n.745-19G>A | |
| ENST00000462980.1:n.722-19G>A | ||
| ENST00000491610.1:n.780-19G>A | ||
| NM_000884.2:c.820-19G>A | NP_000875.2:n.820-19G>A | |
| XM_006713128.2:c.1030-19G>A | XP_006713191.1:n.1030-19G>A | |
| XM_006713128.3:c.1030-19G>A | XP_006713191.1:n.1030-19G>A | |
| XM_017006349.1:c.955-19G>A | XP_016861838.1:n.955-19G>A | |
| XM_017006350.1:c.955-19G>A | XP_016861839.1:n.955-19G>A | |
| NM_000884.3:c.820-19G>A MANE Select | NP_000875.2:n.820-19G>A |