Linked Data
dbSNP Id:
rs4149579
gnomAD v2:
12-6447357-C-T
gnomAD v3:
12-6338191-C-T
gnomAD v4:
12-6338191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6338191C>T , CM000674.2:g.6338191C>T | GRCh38 |
| NC_000012.11:g.6447357C>T , CM000674.1:g.6447357C>T | GRCh37 |
| NC_000012.10:g.6317618C>T | NCBI36 |
| NG_007506.1:g.8905G>A , LRG_193:g.8905G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366159.9:n.73+3585G>A | ||
| ENST00000437813.8:c.39+3585G>A | ENSP00000513672.1:n.39+3585G>A | |
| ENST00000440083.7:c.39+3585G>A | ENSP00000413224.3:n.39+3585G>A | |
| ENST00000535958.2:c.39+3585G>A | ENSP00000513673.1:n.39+3585G>A | |
| ENST00000698339.1:c.39+3585G>A | ENSP00000513670.1:n.39+3585G>A | |
| ENST00000698340.1:c.39+3585G>A | ENSP00000513671.1:n.39+3585G>A | |
| ENST00000162749.7:c.39+3585G>A MANE Select | ENSP00000162749.2:n.39+3585G>A | |
| ENST00000162749.6:c.39+3585G>A | ENSP00000162749.2:n.39+3585G>A | |
| ENST00000366159.8:c.39+3585G>A | ENSP00000380389.3:n.39+3585G>A | |
| ENST00000440083.6:c.39+3585G>A | ENSP00000413224.2:n.39+3585G>A | |
| ENST00000534885.5:c.39+3585G>A | ENSP00000441803.1:n.39+3585G>A | |
| ENST00000535958.1:n.260+3585G>A | ||
| ENST00000536194.1:c.39+3585G>A | ENSP00000442919.1:n.39+3585G>A | |
| ENST00000538363.1:n.229+3585G>A | ||
| ENST00000539372.5:c.39+3585G>A | ENSP00000442059.1:n.39+3585G>A | |
| ENST00000540022.5:c.39+3585G>A | ENSP00000438343.1:n.39+3585G>A | |
| ENST00000543048.5:c.39+3585G>A | ENSP00000439981.1:n.39+3585G>A | |
| ENST00000543995.5:c.39+3585G>A | ENSP00000442405.1:n.39+3585G>A | |
| NM_001065.3:c.39+3585G>A , LRG_193t1:c.39+3585G>A | NP_001056.1:n.39+3585G>A | |
| NM_001346091.1:c.-132+3585G>A | NP_001333020.1:n.-132+3585G>A | |
| NM_001346092.1:c.-539+3585G>A | NP_001333021.1:n.-539+3585G>A | |
| NR_144351.1:n.342+3585G>A | ||
| NM_001065.4:c.39+3585G>A MANE Select | NP_001056.1:n.39+3585G>A | |
| NM_001346091.2:c.-132+3585G>A | NP_001333020.1:n.-132+3585G>A | |
| NM_001346092.2:c.-539+3585G>A | NP_001333021.1:n.-539+3585G>A | |
| NR_144351.2:n.301+3585G>A |