Linked Data
dbSNP Id:
rs1567270258
gnomAD v2:
16-3787011-G-A
gnomAD v3:
16-3737010-G-A
gnomAD v4:
16-3737010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3737010G>A , CM000678.2:g.3737010G>A | GRCh38 |
| NC_000016.9:g.3787011G>A , CM000678.1:g.3787011G>A | GRCh37 |
| NC_000016.8:g.3727012G>A | NCBI36 |
| NG_009873.1:g.148111C>T | |
| NG_009873.2:g.148704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4395-195C>T MANE Select | ENSP00000262367.5:n.4395-195C>T | |
| ENST00000262367.9:c.4395-195C>T | ENSP00000262367.5:n.4395-195C>T | |
| ENST00000382070.7:c.4281-195C>T | ENSP00000371502.3:n.4281-195C>T | |
| ENST00000570939.2:c.3030-195C>T | ENSP00000461002.2:n.3030-195C>T | |
| ENST00000574740.1:n.216-195C>T | ||
| ENST00000576720.1:n.3218-195C>T | ||
| NM_001079846.1:c.4281-195C>T | NP_001073315.1:n.4281-195C>T | |
| NM_004380.2:c.4395-195C>T | NP_004371.2:n.4395-195C>T | |
| XM_005255124.3:c.4350-195C>T | XP_005255181.1:n.4350-195C>T | |
| XM_005255125.3:c.3978-195C>T | XP_005255182.1:n.3978-195C>T | |
| XM_006720848.2:c.4134-195C>T | XP_006720911.1:n.4134-195C>T | |
| XM_011522380.1:c.4341-195C>T | XP_011520682.1:n.4341-195C>T | |
| XM_011522381.1:c.3642-195C>T | XP_011520683.1:n.3642-195C>T | |
| XM_005255124.4:c.4350-195C>T | XP_005255181.1:n.4350-195C>T | |
| XM_005255125.4:c.3978-195C>T | XP_005255182.1:n.3978-195C>T | |
| XM_006720848.3:c.4134-195C>T | XP_006720911.1:n.4134-195C>T | |
| XM_011522381.2:c.3642-195C>T | XP_011520683.1:n.3642-195C>T | |
| XM_017022944.1:c.4389-195C>T | XP_016878433.1:n.4389-195C>T | |
| NM_004380.3:c.4395-195C>T MANE Select | NP_004371.2:n.4395-195C>T |