Linked Data
dbSNP Id:
rs751796653
ExAC:
16:16248700 A / G
gnomAD v2:
16-16248700-A-G
gnomAD v4:
16-16154843-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154843A>G , CM000678.2:g.16154843A>G | GRCh38 |
| NC_000016.9:g.16248700A>G , CM000678.1:g.16248700A>G | GRCh37 |
| NC_000016.8:g.16156201A>G | NCBI36 |
| NG_007558.2:g.73629T>C | |
| NG_007558.3:g.73775T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.904+30T>C | ||
| ENST00000622290.5:c.*213+30T>C | ENSP00000483331.2:n.*213+30T>C | |
| ENST00000205557.12:c.4041+30T>C MANE Select | ENSP00000205557.7:n.4041+30T>C | |
| ENST00000640696.1:c.855+30T>C | ENSP00000492197.1:n.855+30T>C | |
| ENST00000205557.11:c.4041+30T>C | ENSP00000205557.7:n.4041+30T>C | |
| ENST00000456970.6:c.3666+30T>C | ENSP00000405002.2:n.3666+30T>C | |
| ENST00000576204.5:n.904+30T>C | ||
| ENST00000622290.4:c.*1250+30T>C | ENSP00000483331.1:n.*1250+30T>C | |
| NM_001171.5:c.4041+30T>C | NP_001162.4:n.4041+30T>C | |
| XM_011522479.1:c.4008+30T>C | XP_011520781.1:n.4008+30T>C | |
| XM_011522480.1:c.3699+30T>C | XP_011520782.1:n.3699+30T>C | |
| XM_011522481.1:c.3699+30T>C | XP_011520783.1:n.3699+30T>C | |
| XR_933134.1:n.539-4938A>G | ||
| NM_001351800.1:c.3699+30T>C | NP_001338729.1:n.3699+30T>C | |
| NR_147784.1:n.3703+30T>C | ||
| XM_011522479.2:c.4008+30T>C | XP_011520781.1:n.4008+30T>C | |
| XM_011522481.3:c.3699+30T>C | XP_011520783.1:n.3699+30T>C | |
| XM_017023212.1:c.3873+30T>C | XP_016878701.1:n.3873+30T>C | |
| XM_024450261.1:c.4077+30T>C | XP_024306029.1:n.4077+30T>C | |
| NM_001171.6:c.4041+30T>C MANE Select | NP_001162.5:n.4041+30T>C |