Linked Data
dbSNP Id:
rs1179888553
gnomAD v2:
7-55193085-G-A
gnomAD v3:
7-55125392-G-A
gnomAD v4:
7-55125392-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55125392G>A , CM000669.2:g.55125392G>A | GRCh38 |
| NC_000007.13:g.55193085G>A , CM000669.1:g.55193085G>A | GRCh37 |
| NC_000007.12:g.55160579G>A | NCBI36 |
| NG_007726.3:g.111361G>A , LRG_304:g.111361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.-72+15434G>A | ENSP00000413354.2:n.-72+15434G>A | |
| ENST00000700144.1:n.279-16894G>A | ||
| ENST00000344576.7:c.89-16894G>A | ENSP00000345973.2:n.89-16894G>A | |
| ENST00000275493.7:c.89-16894G>A MANE Select | ENSP00000275493.2:n.89-16894G>A | |
| ENST00000275493.6:c.89-16894G>A | ENSP00000275493.2:n.89-16894G>A | |
| ENST00000342916.7:c.89-16894G>A | ENSP00000342376.3:n.89-16894G>A | |
| ENST00000344576.6:c.89-16894G>A | ENSP00000345973.2:n.89-16894G>A | |
| ENST00000420316.6:c.89-16894G>A | ENSP00000413843.2:n.89-16894G>A | |
| ENST00000442591.5:c.89-16894G>A | ENSP00000410031.1:n.89-16894G>A | |
| ENST00000450046.1:c.-72+15434G>A | ENSP00000413354.1:n.-72+15434G>A | |
| ENST00000454757.6:c.89-16894G>A | ENSP00000395243.3:n.89-16894G>A | |
| ENST00000455089.5:c.89-16894G>A | ENSP00000415559.1:n.89-16894G>A | |
| NM_005228.3:c.89-16894G>A , LRG_304t1:c.89-16894G>A | NP_005219.2:n.89-16894G>A | |
| NM_201282.1:c.89-16894G>A | NP_958439.1:n.89-16894G>A | |
| NM_201283.1:c.89-16894G>A | NP_958440.1:n.89-16894G>A | |
| NM_201284.1:c.89-16894G>A | NP_958441.1:n.89-16894G>A | |
| NM_001346897.1:c.89-16894G>A | NP_001333826.1:n.89-16894G>A | |
| NM_001346898.1:c.89-16894G>A | NP_001333827.1:n.89-16894G>A | |
| NM_001346899.1:c.89-16894G>A | NP_001333828.1:n.89-16894G>A | |
| NM_001346900.1:c.-72+15434G>A | NP_001333829.1:n.-72+15434G>A | |
| NM_001346941.1:c.89-30438G>A | NP_001333870.1:n.89-30438G>A | |
| NM_005228.4:c.89-16894G>A | NP_005219.2:n.89-16894G>A | |
| NM_005228.5:c.89-16894G>A MANE Select | NP_005219.2:n.89-16894G>A | |
| NM_001346897.2:c.89-16894G>A | NP_001333826.1:n.89-16894G>A | |
| NM_001346898.2:c.89-16894G>A | NP_001333827.1:n.89-16894G>A | |
| NM_001346900.2:c.-72+15434G>A | NP_001333829.1:n.-72+15434G>A | |
| NM_001346941.2:c.89-30438G>A | NP_001333870.1:n.89-30438G>A | |
| NM_201282.2:c.89-16894G>A | NP_958439.1:n.89-16894G>A | |
| NM_201284.2:c.89-16894G>A | NP_958441.1:n.89-16894G>A | |
| NM_001346899.2:c.89-16894G>A | NP_001333828.1:n.89-16894G>A | |
| NM_201283.2:c.89-16894G>A | NP_958440.1:n.89-16894G>A |