Linked Data
dbSNP Id:
rs1569033
gnomAD v2:
12-79315180-G-A
gnomAD v3:
12-78921400-G-A
gnomAD v4:
12-78921400-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.78921400G>A , CM000674.2:g.78921400G>A | GRCh38 |
| NC_000012.11:g.79315180G>A , CM000674.1:g.79315180G>A | GRCh37 |
| NC_000012.10:g.77839311G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704696.1:c.-346-16751G>A | ENSP00000515993.1:n.-346-16751G>A | |
| ENST00000704697.1:c.-217+56291G>A | ENSP00000515994.1:n.-217+56291G>A | |
| ENST00000704698.1:c.-157+56291G>A | ENSP00000515995.1:n.-157+56291G>A | |
| ENST00000704699.1:c.-84+56291G>A | ENSP00000515996.1:n.-84+56291G>A | |
| ENST00000704700.1:c.-321-34062G>A | ENSP00000515997.1:n.-321-34062G>A | |
| ENST00000704701.1:c.-345-5197G>A | ENSP00000515998.1:n.-345-5197G>A | |
| ENST00000704702.1:c.-354-13750G>A | ENSP00000515999.1:n.-354-13750G>A | |
| ENST00000704703.1:c.-199+56291G>A | ENSP00000516000.1:n.-199+56291G>A | |
| ENST00000704704.1:c.-292+56291G>A | ENSP00000516001.1:n.-292+56291G>A | |
| ENST00000704705.1:c.-453-32827G>A | ENSP00000516002.1:n.-453-32827G>A | |
| ENST00000704706.1:c.-443-5197G>A | ENSP00000516003.1:n.-443-5197G>A | |
| ENST00000704707.1:c.-217+56291G>A | ENSP00000516004.1:n.-217+56291G>A | |
| ENST00000704708.1:c.-188-34062G>A | ENSP00000516005.1:n.-188-34062G>A | |
| ENST00000704709.1:c.-549+56291G>A | ENSP00000516006.1:n.-549+56291G>A | |
| ENST00000704710.1:c.-411+56291G>A | ENSP00000516007.1:n.-411+56291G>A | |
| ENST00000704711.1:c.-217+56291G>A | ENSP00000516008.1:n.-217+56291G>A | |
| ENST00000704712.1:n.192-5197G>A | ||
| ENST00000704713.1:n.96-5197G>A | ||
| ENST00000704714.1:c.-306+56291G>A | ENSP00000516009.1:n.-306+56291G>A | |
| ENST00000704715.1:c.-340-5197G>A | ENSP00000516010.1:n.-340-5197G>A | |
| ENST00000704716.1:c.-217+54169G>A | ENSP00000516011.1:n.-217+54169G>A | |
| ENST00000704717.1:c.-410-34062G>A | ENSP00000516012.1:n.-410-34062G>A | |
| ENST00000704718.1:c.-321-34062G>A | ENSP00000516013.1:n.-321-34062G>A | |
| ENST00000261205.9:c.-217+56291G>A MANE Select | ENSP00000261205.4:n.-217+56291G>A | |
| ENST00000261205.8:c.-217+56291G>A | ENSP00000261205.4:n.-217+56291G>A | |
| ENST00000393240.7:c.-217+56291G>A | ENSP00000376932.3:n.-217+56291G>A | |
| ENST00000457153.6:c.-151+56291G>A | ENSP00000391056.2:n.-151+56291G>A | |
| ENST00000549454.5:n.141-5197G>A | ||
| ENST00000552074.5:c.-217+52489G>A | ENSP00000447035.1:n.-217+52489G>A | |
| NM_001135805.1:c.-217+56291G>A | NP_001129277.1:n.-217+56291G>A | |
| NM_001291901.1:c.-151+56291G>A | NP_001278830.1:n.-151+56291G>A | |
| NM_005639.2:c.-217+56291G>A | NP_005630.1:n.-217+56291G>A | |
| XM_005269113.2:c.-217+56291G>A | XP_005269170.1:n.-217+56291G>A | |
| XM_011538710.1:c.-151+56291G>A | XP_011537012.1:n.-151+56291G>A | |
| XR_945134.1:n.577-16244C>T | ||
| XM_005269113.3:c.-217+56291G>A | XP_005269170.1:n.-217+56291G>A | |
| XM_011538710.2:c.-151+56291G>A | XP_011537012.1:n.-151+56291G>A | |
| XR_945134.2:n.1028-16244C>T | ||
| NM_005639.3:c.-217+56291G>A MANE Select | NP_005630.1:n.-217+56291G>A | |
| NM_001135805.2:c.-217+56291G>A | NP_001129277.1:n.-217+56291G>A | |
| NM_001291901.2:c.-151+56291G>A | NP_001278830.1:n.-151+56291G>A |