Linked Data
ClinVar Variation Id:
410952
dbSNP Id:
rs1060503092
gnomAD v3:
8-133264546-C-T
gnomAD v4:
8-133264546-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133264546C>T , CM000670.2:g.133264546C>T | GRCh38 |
| NC_000008.10:g.134276789C>T , CM000670.1:g.134276789C>T | GRCh37 |
| NC_000008.9:g.134345971C>T | NCBI36 |
| NG_007943.1:g.37710G>A , LRG_258:g.37710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.205+1G>A MANE Select | ENSP00000319977.8:n.205+1G>A | |
| ENST00000517745.2:n.177+1G>A | ||
| ENST00000519580.6:c.205+1G>A | ENSP00000429272.1:n.205+1G>A | |
| ENST00000537882.3:c.205+1G>A | ENSP00000437443.2:n.205+1G>A | |
| ENST00000675010.1:n.379+1G>A | ||
| ENST00000675531.1:n.106+1G>A | ||
| ENST00000676005.1:c.205+1G>A | ENSP00000501604.1:n.205+1G>A | |
| ENST00000676375.1:c.205+1G>A | ENSP00000502695.1:n.205+1G>A | |
| ENST00000676444.1:n.236+1G>A | ||
| ENST00000323851.11:c.205+1G>A | ENSP00000319977.7:n.205+1G>A | |
| ENST00000414097.6:c.205+1G>A | ENSP00000404854.2:n.205+1G>A | |
| ENST00000517599.5:c.100-2379G>A | ENSP00000429172.1:n.100-2379G>A | |
| ENST00000517745.1:n.35+1G>A | ||
| ENST00000518010.5:n.342+1G>A | ||
| ENST00000518066.5:c.36+19730G>A | ENSP00000431057.1:n.36+19730G>A | |
| ENST00000518176.5:c.49-17883G>A | ENSP00000429007.1:n.49-17883G>A | |
| ENST00000518480.5:c.7+1G>A | ENSP00000428802.1:n.7+1G>A | |
| ENST00000519228.5:c.205+1G>A | ENSP00000429994.1:n.205+1G>A | |
| ENST00000519580.5:c.205+1G>A | ENSP00000429272.1:n.205+1G>A | |
| ENST00000520230.5:c.256+1G>A | ENSP00000428345.1:n.256+1G>A | |
| ENST00000520943.5:c.238+1G>A | ENSP00000429840.1:n.238+1G>A | |
| ENST00000521544.5:c.205+1G>A | ENSP00000429524.1:n.205+1G>A | |
| ENST00000522377.5:c.205+1G>A | ENSP00000429380.1:n.205+1G>A | |
| ENST00000522476.5:c.7+1G>A | ENSP00000427894.1:n.7+1G>A | |
| ENST00000522738.1:c.367+1G>A | ENSP00000428991.1:n.367+1G>A | |
| ENST00000522890.5:c.205+1G>A | ENSP00000428384.1:n.205+1G>A | |
| ENST00000523892.5:c.7+1G>A | ENSP00000430171.1:n.7+1G>A | |
| ENST00000523931.1:n.446+1G>A | ||
| ENST00000537882.2:c.-38-2379G>A | ENSP00000437443.1:n.-38-2379G>A | |
| NM_001135242.1:c.205+1G>A | NP_001128714.1:n.205+1G>A | |
| NM_001258432.1:c.7+1G>A | NP_001245361.1:n.7+1G>A | |
| NM_001258433.1:c.-38-2379G>A | NP_001245362.1:n.-38-2379G>A | |
| NM_006096.3:c.205+1G>A , LRG_258t1:c.205+1G>A | NP_006087.2:n.205+1G>A | |
| XM_011516791.1:c.205+1G>A | XP_011515093.1:n.205+1G>A | |
| NM_001135242.2:c.205+1G>A | NP_001128714.1:n.205+1G>A | |
| NM_001258432.2:c.7+1G>A | NP_001245361.1:n.7+1G>A | |
| NM_001258433.2:c.-38-2379G>A | NP_001245362.1:n.-38-2379G>A | |
| NM_001374844.1:c.205+1G>A | NP_001361773.1:n.205+1G>A | |
| NM_001374845.1:c.205+1G>A | NP_001361774.1:n.205+1G>A | |
| NM_001374846.1:c.205+1G>A | NP_001361775.1:n.205+1G>A | |
| NM_001374847.1:c.7+1G>A | NP_001361776.1:n.7+1G>A | |
| NM_006096.4:c.205+1G>A MANE Select | NP_006087.2:n.205+1G>A |