Linked Data
dbSNP Id:
rs11769038
gnomAD v2:
7-36943314-G-T
gnomAD v3:
7-36903709-G-T
gnomAD v4:
7-36903709-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36903709G>T , CM000669.2:g.36903709G>T | GRCh38 |
| NC_000007.13:g.36943314G>T , CM000669.1:g.36943314G>T | GRCh37 |
| NC_000007.12:g.36909839G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310758.9:c.1438-8692C>A MANE Select | ENSP00000312185.4:n.1438-8692C>A | |
| ENST00000310758.8:c.1438-8692C>A | ENSP00000312185.4:n.1438-8692C>A | |
| ENST00000396040.6:c.-3-8692C>A | ENSP00000379355.2:n.-3-8692C>A | |
| ENST00000396045.7:c.-3-8692C>A | ENSP00000379360.3:n.-3-8692C>A | |
| ENST00000420636.5:c.718-8692C>A | ENSP00000396465.1:n.718-8692C>A | |
| ENST00000442504.5:c.1438-8692C>A | ENSP00000406952.1:n.1438-8692C>A | |
| ENST00000448602.5:c.1438-8692C>A | ENSP00000394458.1:n.1438-8692C>A | |
| ENST00000464262.6:n.195-8692C>A | ||
| ENST00000472359.1:n.475-8692C>A | ||
| ENST00000487843.1:n.228-8692C>A | ||
| NM_001039459.2:c.-3-8692C>A | NP_001034548.1:n.-3-8692C>A | |
| NM_001206480.2:c.1438-8692C>A | NP_001193409.1:n.1438-8692C>A | |
| NM_001206482.1:c.1438-8692C>A | NP_001193411.1:n.1438-8692C>A | |
| NM_014800.10:c.1438-8692C>A | NP_055615.8:n.1438-8692C>A | |
| NM_130442.3:c.-3-8692C>A | NP_569709.1:n.-3-8692C>A | |
| NR_038120.1:n.345-8692C>A | ||
| XM_005249919.1:c.1438-8692C>A | XP_005249976.1:n.1438-8692C>A | |
| XM_006715805.1:c.1438-8692C>A | XP_006715868.1:n.1438-8692C>A | |
| XM_011515654.1:c.1438-8692C>A | XP_011513956.1:n.1438-8692C>A | |
| XM_011515655.1:c.1438-8692C>A | XP_011513957.1:n.1438-8692C>A | |
| XM_005249919.3:c.1438-8692C>A | XP_005249976.1:n.1438-8692C>A | |
| XM_011515654.2:c.1438-8692C>A | XP_011513956.1:n.1438-8692C>A | |
| XM_017012839.1:c.1438-8692C>A | XP_016868328.1:n.1438-8692C>A | |
| XM_024447008.1:c.1438-8692C>A | XP_024302776.1:n.1438-8692C>A | |
| XR_001744894.2:n.1787-8692C>A | ||
| NM_001039459.3:c.-3-8692C>A | NP_001034548.1:n.-3-8692C>A | |
| NM_001206482.2:c.1438-8692C>A | NP_001193411.1:n.1438-8692C>A | |
| NM_014800.11:c.1438-8692C>A MANE Select | NP_055615.8:n.1438-8692C>A | |
| NM_130442.4:c.-3-8692C>A | NP_569709.1:n.-3-8692C>A | |
| NR_038120.2:n.212-8692C>A |