Linked Data
dbSNP Id:
rs1697137
gnomAD v2:
5-66452175-G-A
gnomAD v3:
5-67156347-G-A
gnomAD v4:
5-67156347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67156347G>A , CM000667.2:g.67156347G>A | GRCh38 |
| NC_000005.9:g.66452175G>A , CM000667.1:g.66452175G>A | GRCh37 |
| NC_000005.8:g.66487931G>A | NCBI36 |
| NG_034036.1:g.565000G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403625.7:c.3648+2767G>A MANE Select | ENSP00000385727.1:n.3648+2767G>A | |
| ENST00000261569.11:c.3066+2767G>A | ENSP00000261569.7:n.3066+2767G>A | |
| ENST00000403625.6:c.3648+2767G>A | ENSP00000385727.1:n.3648+2767G>A | |
| ENST00000403666.5:c.3081+2767G>A | ENSP00000384313.1:n.3081+2767G>A | |
| ENST00000405643.5:c.3111+2767G>A | ENSP00000384099.1:n.3111+2767G>A | |
| ENST00000443808.1:c.817+2767G>A | ||
| NM_001164664.1:c.3648+2767G>A | NP_001158136.1:n.3648+2767G>A | |
| NM_001290226.1:c.3030+2767G>A | NP_001277155.1:n.3030+2767G>A | |
| NM_001290227.1:c.2865+2767G>A | NP_001277156.1:n.2865+2767G>A | |
| NM_001297651.1:c.3066+2767G>A | NP_001284580.1:n.3066+2767G>A | |
| NM_015183.2:c.3081+2767G>A | NP_055998.1:n.3081+2767G>A | |
| XM_006714606.2:c.3066+2767G>A | XP_006714669.1:n.3066+2767G>A | |
| XM_006714610.1:c.2865+2767G>A | XP_006714673.1:n.2865+2767G>A | |
| XM_011543381.1:c.3945+2767G>A | XP_011541683.1:n.3945+2767G>A | |
| XM_011543382.1:c.3759+2767G>A | XP_011541684.1:n.3759+2767G>A | |
| XM_011543383.1:c.3684+2767G>A | XP_011541685.1:n.3684+2767G>A | |
| XM_011543384.1:c.3048+2767G>A | XP_011541686.1:n.3048+2767G>A | |
| XM_011543385.1:c.3021+2767G>A | XP_011541687.1:n.3021+2767G>A | |
| XM_011543386.1:c.3012+2767G>A | XP_011541688.1:n.3012+2767G>A | |
| XM_006714606.3:c.3066+2767G>A | XP_006714669.1:n.3066+2767G>A | |
| XM_006714610.2:c.2865+2767G>A | XP_006714673.1:n.2865+2767G>A | |
| XM_011543384.2:c.3048+2767G>A | XP_011541686.1:n.3048+2767G>A | |
| XM_011543385.3:c.3021+2767G>A | XP_011541687.1:n.3021+2767G>A | |
| XM_011543386.2:c.3012+2767G>A | XP_011541688.1:n.3012+2767G>A | |
| XM_017009449.1:c.3102+2767G>A | XP_016864938.1:n.3102+2767G>A | |
| XM_017009450.1:c.3045+2767G>A | XP_016864939.1:n.3045+2767G>A | |
| XM_017009451.1:c.2844+2767G>A | XP_016864940.1:n.2844+2767G>A | |
| XM_017009452.1:c.2604+2767G>A | XP_016864941.1:n.2604+2767G>A | |
| XM_017009453.1:c.2604+2767G>A | XP_016864942.1:n.2604+2767G>A | |
| XM_024446044.1:c.3864+2767G>A | XP_024301812.1:n.3864+2767G>A | |
| NM_001164664.2:c.3648+2767G>A MANE Select | NP_001158136.1:n.3648+2767G>A | |
| NM_001290226.2:c.3030+2767G>A | NP_001277155.1:n.3030+2767G>A | |
| NM_001290227.2:c.2865+2767G>A | NP_001277156.1:n.2865+2767G>A | |
| NM_001297651.2:c.3066+2767G>A | NP_001284580.1:n.3066+2767G>A | |
| NM_015183.3:c.3081+2767G>A | NP_055998.1:n.3081+2767G>A | |
| NM_001393524.1:c.3657+2767G>A | NP_001380453.1:n.3657+2767G>A | |
| NM_001393525.1:c.3447+2767G>A | NP_001380454.1:n.3447+2767G>A | |
| NM_001393526.1:c.2880+2767G>A | NP_001380455.1:n.2880+2767G>A | |
| NM_001393527.1:c.2865+2767G>A | NP_001380456.1:n.2865+2767G>A | |
| NM_001393528.1:c.2844+2767G>A | NP_001380457.1:n.2844+2767G>A |