Linked Data
dbSNP Id:
rs549038402
gnomAD v2:
14-81432509-A-G
gnomAD v3:
14-80966165-A-G
gnomAD v4:
14-80966165-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.80966165A>G , CM000676.2:g.80966165A>G | GRCh38 |
| NC_000014.8:g.81432509A>G , CM000676.1:g.81432509A>G | GRCh37 |
| NC_000014.7:g.80502262A>G | NCBI36 |
| NG_009206.1:g.15641A>G , LRG_523:g.15641A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.170+10315A>G MANE Select | ENSP00000298171.2:n.170+10315A>G | |
| ENST00000642209.1:c.170+10315A>G | ENSP00000495625.1:n.170+10315A>G | |
| ENST00000298171.6:c.170+10315A>G | ENSP00000298171.2:n.170+10315A>G | |
| ENST00000342443.10:c.170+10315A>G | ENSP00000340113.6:n.170+10315A>G | |
| ENST00000541158.6:c.170+10315A>G | ENSP00000441235.2:n.170+10315A>G | |
| ENST00000553763.1:n.270+10315A>G | ||
| ENST00000554263.5:c.170+10315A>G | ENSP00000451202.1:n.170+10315A>G | |
| ENST00000554435.1:c.170+10315A>G | ENSP00000450549.1:n.170+10315A>G | |
| ENST00000555326.5:c.170+10315A>G | ENSP00000451092.1:n.170+10315A>G | |
| NM_000369.2:c.170+10315A>G , LRG_523t1:c.170+10315A>G | NP_000360.2:n.170+10315A>G | |
| NM_001018036.2:c.170+10315A>G | NP_001018046.1:n.170+10315A>G | |
| NM_001142626.2:c.170+10315A>G | NP_001136098.1:n.170+10315A>G | |
| XM_005268037.3:c.170+10315A>G | XP_005268094.1:n.170+10315A>G | |
| XM_005268039.1:c.170+10315A>G | XP_005268096.1:n.170+10315A>G | |
| XM_006720245.1:c.170+10315A>G | XP_006720308.1:n.170+10315A>G | |
| XM_011537119.1:c.-159+10315A>G | XP_011535421.1:n.-159+10315A>G | |
| XM_005268037.4:c.170+10315A>G | XP_005268094.1:n.170+10315A>G | |
| XM_011537119.2:c.-159+10315A>G | XP_011535421.1:n.-159+10315A>G | |
| NM_000369.4:c.170+10315A>G | NP_000360.2:n.170+10315A>G | |
| NM_001018036.3:c.170+10315A>G | NP_001018046.1:n.170+10315A>G | |
| NM_001142626.3:c.170+10315A>G | NP_001136098.1:n.170+10315A>G | |
| NM_000369.5:c.170+10315A>G MANE Select | NP_000360.2:n.170+10315A>G |