Linked Data
dbSNP Id:
rs369416479
ExAC:
16:56385259 G / A
gnomAD v2:
16-56385259-G-A
gnomAD v3:
16-56351347-G-A
gnomAD v4:
16-56351347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351347G>A , CM000678.2:g.56351347G>A | GRCh38 |
| NC_000016.9:g.56385259G>A , CM000678.1:g.56385259G>A | GRCh37 |
| NC_000016.8:g.54942760G>A | NCBI36 |
| NG_042800.1:g.165009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.724-37G>A MANE Select | ENSP00000262493.6:n.724-37G>A | |
| ENST00000562316.6:c.391-37G>A | ENSP00000457238.2:n.391-37G>A | |
| ENST00000564727.2:c.28-37G>A | ENSP00000454971.2:n.28-37G>A | |
| ENST00000568375.2:c.116-3519G>A | ||
| ENST00000638185.1:n.939-37G>A | ||
| ENST00000638210.1:n.1024-37G>A | ||
| ENST00000638705.1:c.724-37G>A | ENSP00000491223.1:n.724-37G>A | |
| ENST00000638836.1:n.634-37G>A | ||
| ENST00000639055.1:n.1445-37G>A | ||
| ENST00000639251.1:n.625-37G>A | ||
| ENST00000639268.1:c.359-37G>A | ||
| ENST00000639341.1:c.249-37G>A | ||
| ENST00000639770.1:c.762-37G>A | ENSP00000491999.1:n.762-37G>A | |
| ENST00000640390.1:n.654-37G>A | ||
| ENST00000640469.1:c.88-37G>A | ENSP00000491875.1:n.88-37G>A | |
| ENST00000640560.1:n.500-37G>A | ||
| ENST00000640893.1:c.*122-37G>A | ENSP00000492677.1:n.*122-37G>A | |
| ENST00000262493.10:c.724-37G>A | ENSP00000262493.6:n.724-37G>A | |
| ENST00000568375.1:n.116-3519G>A | ||
| NM_020988.2:c.724-37G>A | NP_066268.1:n.724-37G>A | |
| XM_011523003.1:c.598-37G>A | XP_011521305.1:n.598-37G>A | |
| XM_011523003.3:c.598-37G>A | XP_011521305.1:n.598-37G>A | |
| NM_020988.3:c.724-37G>A MANE Select | NP_066268.1:n.724-37G>A |