Linked Data
dbSNP Id:
rs16924573
gnomAD v2:
10-24604893-G-A
gnomAD v3:
10-24315964-G-A
gnomAD v4:
10-24315964-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.24315964G>A , CM000672.2:g.24315964G>A | GRCh38 |
| NC_000010.10:g.24604893G>A , CM000672.1:g.24604893G>A | GRCh37 |
| NC_000010.9:g.24644899G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696626.1:c.117+60368G>A | ENSP00000512763.1:n.117+60368G>A | |
| ENST00000376454.8:c.355-64905G>A MANE Select | ENSP00000365637.3:n.355-64905G>A | |
| ENST00000376452.7:c.355-64905G>A | ENSP00000365635.3:n.355-64905G>A | |
| ENST00000376454.7:c.355-64905G>A | ENSP00000365637.3:n.355-64905G>A | |
| ENST00000376456.8:c.355-64905G>A | ENSP00000365639.4:n.355-64905G>A | |
| ENST00000376462.5:c.115-64905G>A | ENSP00000365645.1:n.115-64905G>A | |
| ENST00000430453.6:c.115-64905G>A | ENSP00000389680.3:n.115-64905G>A | |
| ENST00000438429.5:c.-96-64905G>A | ENSP00000404798.1:n.-96-64905G>A | |
| ENST00000458595.5:c.355-64905G>A | ENSP00000392625.1:n.355-64905G>A | |
| ENST00000635504.1:c.355-51155G>A | ENSP00000489052.1:n.355-51155G>A | |
| NM_001098500.2:c.115-64905G>A | NP_001091970.1:n.115-64905G>A | |
| NM_001282767.1:c.355-64905G>A | NP_001269696.1:n.355-64905G>A | |
| NM_001282768.1:c.355-64905G>A | NP_001269697.1:n.355-64905G>A | |
| NM_019590.4:c.355-64905G>A | NP_062536.2:n.355-64905G>A | |
| XM_005252500.2:c.355-51155G>A | XP_005252557.1:n.355-51155G>A | |
| XM_005252503.2:c.355-64905G>A | XP_005252560.1:n.355-64905G>A | |
| XM_005252507.2:c.355-64905G>A | XP_005252564.1:n.355-64905G>A | |
| XM_005252512.2:c.-96-64905G>A | XP_005252569.1:n.-96-64905G>A | |
| XM_005252513.2:c.-96-64905G>A | XP_005252570.1:n.-96-64905G>A | |
| XM_011519549.1:c.115-51155G>A | XP_011517851.1:n.115-51155G>A | |
| XM_011519550.1:c.115-51155G>A | XP_011517852.1:n.115-51155G>A | |
| XM_011519551.1:c.115-51155G>A | XP_011517853.1:n.115-51155G>A | |
| XM_011519552.1:c.115-51155G>A | XP_011517854.1:n.115-51155G>A | |
| XM_011519553.1:c.115-64905G>A | XP_011517855.1:n.115-64905G>A | |
| XM_011519554.1:c.115-51155G>A | XP_011517856.1:n.115-51155G>A | |
| XM_011519555.1:c.115-64905G>A | XP_011517857.1:n.115-64905G>A | |
| XM_011519556.1:c.115-51155G>A | XP_011517858.1:n.115-51155G>A | |
| XM_011519557.1:c.115-51155G>A | XP_011517859.1:n.115-51155G>A | |
| XM_011519558.1:c.115-51155G>A | XP_011517860.1:n.115-51155G>A | |
| XM_011519559.1:c.115-64905G>A | XP_011517861.1:n.115-64905G>A | |
| XM_011519560.1:c.-146-51155G>A | XP_011517862.1:n.-146-51155G>A | |
| XM_011519561.1:c.115-51155G>A | XP_011517863.1:n.115-51155G>A | |
| XM_011519562.1:c.115-51155G>A | XP_011517864.1:n.115-51155G>A | |
| XM_011519563.1:c.115-51155G>A | XP_011517865.1:n.115-51155G>A | |
| XM_011519564.1:c.115-64905G>A | XP_011517866.1:n.115-64905G>A | |
| XM_011519565.1:c.115-64905G>A | XP_011517867.1:n.115-64905G>A | |
| XM_011519566.1:c.115-64905G>A | XP_011517868.1:n.115-64905G>A | |
| XM_011519567.1:c.115-51155G>A | XP_011517869.1:n.115-51155G>A | |
| XM_011519568.1:c.115-51155G>A | XP_011517870.1:n.115-51155G>A | |
| XM_011519552.3:c.496-51155G>A | XP_011517854.2:n.496-51155G>A | |
| XM_011519555.3:c.496-64905G>A | XP_011517857.2:n.496-64905G>A | |
| XM_011519558.2:c.496-51155G>A | XP_011517860.2:n.496-51155G>A | |
| XM_011519559.2:c.496-64905G>A | XP_011517861.2:n.496-64905G>A | |
| XM_011519562.2:c.496-51155G>A | XP_011517864.2:n.496-51155G>A | |
| XM_011519564.2:c.115-64905G>A | XP_011517866.1:n.115-64905G>A | |
| XM_011519565.3:c.496-64905G>A | XP_011517867.2:n.496-64905G>A | |
| XM_011519566.2:c.496-64905G>A | XP_011517868.2:n.496-64905G>A | |
| XM_017016416.1:c.355-51155G>A | XP_016871905.1:n.355-51155G>A | |
| XM_017016417.1:c.355-64905G>A | XP_016871906.1:n.355-64905G>A | |
| XM_017016418.2:c.117+60368G>A | XP_016871907.1:n.117+60368G>A | |
| XM_017016419.2:c.117+60368G>A | XP_016871908.1:n.117+60368G>A | |
| XM_017016420.1:c.-96-64905G>A | XP_016871909.1:n.-96-64905G>A | |
| XM_017016421.1:c.-146-51155G>A | XP_016871910.1:n.-146-51155G>A | |
| XM_017016422.1:c.-96-64905G>A | XP_016871911.1:n.-96-64905G>A | |
| XM_017016425.2:c.496-51155G>A | XP_016871914.1:n.496-51155G>A | |
| XM_017016426.2:c.496-51155G>A | XP_016871915.1:n.496-51155G>A | |
| XM_017016427.2:c.496-51155G>A | XP_016871916.1:n.496-51155G>A | |
| XM_017016429.1:c.115-64905G>A | XP_016871918.1:n.115-64905G>A | |
| XM_024448082.1:c.115-64905G>A | XP_024303850.1:n.115-64905G>A | |
| XM_024448083.1:c.115-64905G>A | XP_024303851.1:n.115-64905G>A | |
| XM_024448084.1:c.115-64905G>A | XP_024303852.1:n.115-64905G>A | |
| XM_024448085.1:c.115-64905G>A | XP_024303853.1:n.115-64905G>A | |
| XM_024448086.1:c.115-64905G>A | XP_024303854.1:n.115-64905G>A | |
| NM_019590.5:c.355-64905G>A MANE Select | NP_062536.2:n.355-64905G>A | |
| NM_001098500.3:c.115-64905G>A | NP_001091970.1:n.115-64905G>A | |
| NM_001282767.2:c.355-64905G>A | NP_001269696.1:n.355-64905G>A | |
| NM_001282768.2:c.355-64905G>A | NP_001269697.1:n.355-64905G>A |