Linked Data
dbSNP Id:
rs1017773204
gnomAD v2:
6-36648608-G-A
gnomAD v3:
6-36680831-G-A
gnomAD v4:
6-36680831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36680831G>A , CM000668.2:g.36680831G>A | GRCh38 |
| NC_000006.11:g.36648608G>A , CM000668.1:g.36648608G>A | GRCh37 |
| NC_000006.10:g.36756586G>A | NCBI36 |
| NG_009364.1:g.7150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244741.10:c.-6+2033G>A MANE Select | ENSP00000244741.6:n.-6+2033G>A | |
| ENST00000244741.9:c.-6+2033G>A | ENSP00000244741.5:n.-6+2033G>A | |
| ENST00000373711.3:c.-96-1809G>A | ENSP00000362815.1:n.-96-1809G>A | |
| ENST00000405375.5:c.-6+1892G>A | ENSP00000384849.1:n.-6+1892G>A | |
| ENST00000448526.6:c.-6+2898G>A | ENSP00000409259.3:n.-6+2898G>A | |
| ENST00000459970.1:n.189+2898G>A | ||
| ENST00000462537.3:n.527G>A | ||
| ENST00000478800.1:n.214+1892G>A | ||
| ENST00000615513.4:c.-5-3266G>A | ENSP00000482768.1:n.-5-3266G>A | |
| NM_000389.4:c.-6+2033G>A | NP_000380.1:n.-6+2033G>A | |
| NM_001220777.1:c.-5-3266G>A | NP_001207706.1:n.-5-3266G>A | |
| NM_001220778.1:c.-6+1892G>A | NP_001207707.1:n.-6+1892G>A | |
| NM_001291549.1:c.97+2898G>A | NP_001278478.1:n.97+2898G>A | |
| NM_078467.2:c.-6+2898G>A | NP_510867.1:n.-6+2898G>A | |
| XM_011515041.1:c.589G>A | XP_011513343.1:p.Glu197Lys | |
| NM_000389.5:c.-6+2033G>A MANE Select | NP_000380.1:n.-6+2033G>A | |
| NM_001220777.2:c.-5-3266G>A | NP_001207706.1:n.-5-3266G>A | |
| NM_001220778.2:c.-6+1892G>A | NP_001207707.1:n.-6+1892G>A | |
| NM_001291549.3:c.97+2898G>A | NP_001278478.1:n.97+2898G>A | |
| NM_001374509.1:c.97+2898G>A | NP_001361438.1:n.97+2898G>A | |
| NM_001374510.1:c.35-3266G>A | NP_001361439.1:n.35-3266G>A | |
| NM_001374511.1:c.-6+2033G>A | NP_001361440.1:n.-6+2033G>A | |
| NM_001374512.1:c.-6+2033G>A | NP_001361441.1:n.-6+2033G>A | |
| NM_001374513.1:c.-6+1926G>A | NP_001361442.1:n.-6+1926G>A | |
| NM_078467.3:c.-6+2898G>A | NP_510867.1:n.-6+2898G>A | |
| NR_164655.1:n.443G>A | ||
| NR_164656.1:n.584G>A |