Linked Data
dbSNP Id:
rs11168249
gnomAD v2:
12-48208368-T-C
gnomAD v3:
12-47814585-T-C
gnomAD v4:
12-47814585-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47814585T>C , CM000674.2:g.47814585T>C | GRCh38 |
| NC_000012.11:g.48208368T>C , CM000674.1:g.48208368T>C | GRCh37 |
| NC_000012.10:g.46494635T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000080059.12:c.19+5182A>G MANE Select | ENSP00000080059.7:n.19+5182A>G | |
| ENST00000080059.11:c.19+5182A>G | ENSP00000080059.7:n.19+5182A>G | |
| ENST00000354334.7:c.19+5182A>G | ENSP00000351326.3:n.19+5182A>G | |
| ENST00000417107.5:c.-99+4535A>G | ENSP00000387792.1:n.-99+4535A>G | |
| ENST00000417902.5:c.19+5182A>G | ENSP00000400811.1:n.19+5182A>G | |
| ENST00000425451.2:c.19+5182A>G | ENSP00000401872.2:n.19+5182A>G | |
| ENST00000427332.6:c.-99+5969A>G | ENSP00000404394.2:n.-99+5969A>G | |
| ENST00000430670.5:c.19+5182A>G | ENSP00000396159.1:n.19+5182A>G | |
| ENST00000433685.5:c.-48+5898A>G | ENSP00000403149.1:n.-48+5898A>G | |
| ENST00000434070.5:c.-98-12311A>G | ENSP00000388561.1:n.-98-12311A>G | |
| ENST00000440293.5:c.19+5182A>G | ENSP00000411058.1:n.19+5182A>G | |
| ENST00000447463.5:c.-48+5969A>G | ENSP00000389501.2:n.-48+5969A>G | |
| ENST00000450805.5:c.-99+4535A>G | ENSP00000397236.1:n.-99+4535A>G | |
| ENST00000552960.5:c.19+5182A>G | ENSP00000448532.1:n.19+5182A>G | |
| NM_001098416.2:c.19+5182A>G | NP_001091886.1:n.19+5182A>G | |
| NM_001098416.3:c.19+5182A>G | NP_001091886.1:n.19+5182A>G | |
| NM_001308090.1:c.19+5182A>G | NP_001295019.1:n.19+5182A>G | |
| NM_015401.3:c.19+5182A>G | NP_056216.2:n.19+5182A>G | |
| NM_015401.4:c.19+5182A>G | NP_056216.2:n.19+5182A>G | |
| XM_006719454.2:c.61+5771A>G | XP_006719517.1:n.61+5771A>G | |
| XM_011538479.1:c.40+50A>G | XP_011536781.1:n.40+50A>G | |
| XM_011538481.1:c.-99+5969A>G | XP_011536783.1:n.-99+5969A>G | |
| XM_011538482.1:c.-99+4535A>G | XP_011536784.1:n.-99+4535A>G | |
| XM_024449018.1:c.40+50A>G | XP_024304786.1:n.40+50A>G | |
| NM_015401.5:c.19+5182A>G MANE Select | NP_056216.2:n.19+5182A>G | |
| NM_001098416.4:c.19+5182A>G | NP_001091886.1:n.19+5182A>G | |
| NM_001308090.2:c.19+5182A>G | NP_001295019.1:n.19+5182A>G | |
| NM_001368046.1:c.19+5182A>G | NP_001354975.1:n.19+5182A>G | |
| NR_160435.1:n.137+5182A>G | ||
| NR_160436.1:n.137+5182A>G |