Linked Data
dbSNP Id:
rs1292028606
gnomAD v2:
2-216209113-T-A
gnomAD v3:
2-215344390-T-A
gnomAD v4:
2-215344390-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215344390T>A , CM000664.2:g.215344390T>A | GRCh38 |
| NC_000002.11:g.216209113T>A , CM000664.1:g.216209113T>A | GRCh37 |
| NC_000002.10:g.215917358T>A | NCBI36 |
| NG_013002.1:g.37435T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236959.14:c.1228-389T>A MANE Select | ENSP00000236959.9:n.1228-389T>A | |
| ENST00000236959.13:c.1228-389T>A | ENSP00000236959.9:n.1228-389T>A | |
| ENST00000426233.1:c.233-389T>A | ||
| ENST00000435675.5:c.1225-389T>A | ENSP00000415935.1:n.1225-389T>A | |
| ENST00000443953.5:c.*1325-389T>A | ENSP00000406792.1:n.*1325-389T>A | |
| ENST00000446622.5:n.308-389T>A | ||
| ENST00000459796.1:n.39-389T>A | ||
| ENST00000467388.1:n.140-389T>A | ||
| ENST00000479093.5:n.143-389T>A | ||
| NM_004044.6:c.1228-389T>A | NP_004035.2:n.1228-389T>A | |
| XM_017004187.2:c.1228-389T>A | XP_016859676.1:n.1228-389T>A | |
| XM_024452919.1:c.1051-389T>A | XP_024308687.1:n.1051-389T>A | |
| NM_004044.7:c.1228-389T>A MANE Select | NP_004035.2:n.1228-389T>A |