Linked Data
dbSNP Id:
rs11574637
gnomAD v2:
16-31368874-T-C
gnomAD v3:
16-31357553-T-C
gnomAD v4:
16-31357553-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31357553T>C , CM000678.2:g.31357553T>C | GRCh38 |
| NC_000016.9:g.31368874T>C , CM000678.1:g.31368874T>C | GRCh37 |
| NC_000016.8:g.31276375T>C | NCBI36 |
| NG_011451.1:g.7366T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268296.9:c.430+189T>C MANE Select | ENSP00000268296.5:n.430+189T>C | |
| ENST00000268296.8:c.430+189T>C | ENSP00000268296.4:n.430+189T>C | |
| ENST00000562522.2:c.430+189T>C | ENSP00000454623.1:n.430+189T>C | |
| ENST00000562918.5:c.538T>C | ENSP00000483860.1:p.Phe180Leu | |
| ENST00000567409.1:n.837T>C | ||
| NM_000887.4:c.430+189T>C | NP_000878.2:n.430+189T>C | |
| NM_001286375.1:c.430+189T>C | NP_001273304.1:n.430+189T>C | |
| XM_011545852.1:c.430+189T>C | XP_011544154.1:n.430+189T>C | |
| XM_011545853.1:c.430+189T>C | XP_011544155.1:n.430+189T>C | |
| XM_011545854.1:c.430+189T>C | XP_011544156.1:n.430+189T>C | |
| XR_950797.1:n.518+189T>C | ||
| XR_950797.2:n.518+189T>C | ||
| NM_000887.5:c.430+189T>C MANE Select | NP_000878.2:n.430+189T>C | |
| NM_001286375.2:c.430+189T>C | NP_001273304.1:n.430+189T>C |