Linked Data
dbSNP Id:
rs8181477
gnomAD v2:
10-18782880-A-C
gnomAD v3:
10-18493951-A-C
gnomAD v4:
10-18493951-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18493951A>C , CM000672.2:g.18493951A>C | GRCh38 |
| NC_000010.10:g.18782880A>C , CM000672.1:g.18782880A>C | GRCh37 |
| NC_000010.9:g.18822886A>C | NCBI36 |
| NG_016195.1:g.358275A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377315.6:c.190-4404A>C | ENSP00000366532.4:n.190-4404A>C | |
| ENST00000377319.9:c.169-4404A>C | ENSP00000366536.3:n.169-4404A>C | |
| ENST00000645287.2:c.250-4404A>C | ENSP00000496203.1:n.250-4404A>C | |
| ENST00000282343.13:c.250-4404A>C | ENSP00000282343.8:n.250-4404A>C | |
| ENST00000324631.13:c.334-4404A>C MANE Select | ENSP00000320025.8:n.334-4404A>C | |
| ENST00000377315.5:c.190-4404A>C | ENSP00000366532.4:n.190-4404A>C | |
| ENST00000377319.8:c.169-4404A>C | ENSP00000366536.3:n.169-4404A>C | |
| ENST00000377329.10:c.172-4404A>C MANE Plus Clinical | ENSP00000366546.4:n.172-4404A>C | |
| ENST00000377331.8:c.169-4404A>C | ENSP00000366548.4:n.169-4404A>C | |
| ENST00000643096.2:c.250-4404A>C | ENSP00000494209.2:n.250-4404A>C | |
| ENST00000643330.1:n.535-4404A>C | ||
| ENST00000644004.1:c.250-4404A>C | ENSP00000495509.1:n.250-4404A>C | |
| ENST00000645287.1:c.250-4404A>C | ENSP00000496203.1:n.250-4404A>C | |
| ENST00000647168.2:c.190-4404A>C | ENSP00000495854.2:n.190-4404A>C | |
| ENST00000650685.1:c.190-4404A>C | ENSP00000498460.1:n.190-4404A>C | |
| ENST00000651330.1:c.190-4404A>C | ENSP00000498457.1:n.190-4404A>C | |
| ENST00000651468.1:c.82-4404A>C | ENSP00000498352.1:n.82-4404A>C | |
| ENST00000651928.1:c.190-4404A>C | ENSP00000499177.1:n.190-4404A>C | |
| ENST00000652391.1:c.154-4404A>C | ENSP00000498938.1:n.154-4404A>C | |
| ENST00000652478.1:c.190-4404A>C | ENSP00000498812.1:n.190-4404A>C | |
| ENST00000282343.12:c.250-4404A>C | ENSP00000282343.8:n.250-4404A>C | |
| ENST00000324631.11:c.334-4404A>C | ENSP00000320025.7:n.334-4404A>C | |
| ENST00000352115.10:c.334-4404A>C | ENSP00000344474.6:n.334-4404A>C | |
| ENST00000377315.4:c.190-4404A>C | ENSP00000366532.4:n.190-4404A>C | |
| ENST00000377319.7:c.169-4404A>C | ENSP00000366536.3:n.169-4404A>C | |
| ENST00000377328.5:c.334-4404A>C | ENSP00000366545.1:n.334-4404A>C | |
| ENST00000377329.8:c.172-4404A>C | ENSP00000366546.4:n.172-4404A>C | |
| ENST00000377331.6:c.250-4404A>C | ENSP00000366548.2:n.250-4404A>C | |
| ENST00000396576.6:c.169-4404A>C | ENSP00000379821.2:n.169-4404A>C | |
| ENST00000498816.1:n.382-4404A>C | ||
| ENST00000612134.4:c.172-4404A>C | ENSP00000480563.1:n.172-4404A>C | |
| ENST00000612743.1:c.35-45313A>C | ENSP00000478676.1:n.35-45313A>C | |
| ENST00000615785.4:c.169-4404A>C | ENSP00000480260.1:n.169-4404A>C | |
| ENST00000617363.4:c.169-4404A>C | ENSP00000479756.1:n.169-4404A>C | |
| NM_000724.3:c.169-4404A>C | NP_000715.2:n.169-4404A>C | |
| NM_001167945.1:c.250-4404A>C | NP_001161417.1:n.250-4404A>C | |
| NM_201570.2:c.190-4404A>C | NP_963864.1:n.190-4404A>C | |
| NM_201571.3:c.250-4404A>C | NP_963865.2:n.250-4404A>C | |
| NM_201572.3:c.250-4404A>C | NP_963866.2:n.250-4404A>C | |
| NM_201590.2:c.172-4404A>C | NP_963884.2:n.172-4404A>C | |
| NM_201593.2:c.334-4404A>C | NP_963887.2:n.334-4404A>C | |
| NM_201596.2:c.334-4404A>C | NP_963890.2:n.334-4404A>C | |
| NM_201597.2:c.334-4404A>C | NP_963891.1:n.334-4404A>C | |
| XM_005252588.2:c.190-4404A>C | XP_005252645.1:n.190-4404A>C | |
| XM_006717502.2:c.154-4404A>C | XP_006717565.1:n.154-4404A>C | |
| XM_011519659.1:c.172-4404A>C | XP_011517961.1:n.172-4404A>C | |
| XM_011519660.1:c.169-4404A>C | XP_011517962.1:n.169-4404A>C | |
| NM_001330060.1:c.169-4404A>C | NP_001316989.1:n.169-4404A>C | |
| XM_005252588.4:c.190-4404A>C | XP_005252645.1:n.190-4404A>C | |
| XM_006717502.3:c.154-4404A>C | XP_006717565.1:n.154-4404A>C | |
| XM_011519659.2:c.172-4404A>C | XP_011517961.1:n.172-4404A>C | |
| XM_017016625.1:c.-455-4404A>C | XP_016872114.1:n.-455-4404A>C | |
| XR_001747198.1:n.511-4404A>C | ||
| NM_000724.4:c.169-4404A>C | NP_000715.2:n.169-4404A>C | |
| NM_001167945.2:c.250-4404A>C | NP_001161417.1:n.250-4404A>C | |
| NM_001330060.2:c.169-4404A>C | NP_001316989.1:n.169-4404A>C | |
| NM_201570.3:c.190-4404A>C | NP_963864.1:n.190-4404A>C | |
| NM_201571.4:c.250-4404A>C | NP_963865.2:n.250-4404A>C | |
| NM_201572.4:c.250-4404A>C | NP_963866.2:n.250-4404A>C | |
| NM_201590.3:c.172-4404A>C MANE Plus Clinical | NP_963884.2:n.172-4404A>C | |
| NM_201593.3:c.334-4404A>C | NP_963887.2:n.334-4404A>C | |
| NM_201596.3:c.334-4404A>C MANE Select | NP_963890.2:n.334-4404A>C | |
| NM_201597.3:c.334-4404A>C | NP_963891.1:n.334-4404A>C |