Linked Data
dbSNP Id:
rs192497613
gnomAD v2:
16-2365200-A-T
gnomAD v3:
16-2315199-A-T
gnomAD v4:
16-2315199-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2315199A>T , CM000678.2:g.2315199A>T | GRCh38 |
| NC_000016.9:g.2365200A>T , CM000678.1:g.2365200A>T | GRCh37 |
| NC_000016.8:g.2305201A>T | NCBI36 |
| NG_011790.1:g.30548T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.1111+2084T>A MANE Select | ENSP00000301732.5:n.1111+2084T>A | |
| ENST00000301732.9:c.1111+2084T>A | ENSP00000301732.5:n.1111+2084T>A | |
| ENST00000382381.7:c.1111+2084T>A | ENSP00000371818.3:n.1111+2084T>A | |
| ENST00000563623.5:n.1674+2084T>A | ||
| NM_001089.2:c.1111+2084T>A | NP_001080.2:n.1111+2084T>A | |
| NM_001089.3:c.1111+2084T>A MANE Select | NP_001080.2:n.1111+2084T>A |