Linked Data
dbSNP Id:
rs10488023
gnomAD v2:
7-36952021-A-G
gnomAD v3:
7-36912416-A-G
gnomAD v4:
7-36912416-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36912416A>G , CM000669.2:g.36912416A>G | GRCh38 |
| NC_000007.13:g.36952021A>G , CM000669.1:g.36952021A>G | GRCh37 |
| NC_000007.12:g.36918546A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310758.9:c.1438-17399T>C MANE Select | ENSP00000312185.4:n.1438-17399T>C | |
| ENST00000310758.8:c.1438-17399T>C | ENSP00000312185.4:n.1438-17399T>C | |
| ENST00000396040.6:c.-3-17399T>C | ENSP00000379355.2:n.-3-17399T>C | |
| ENST00000396045.7:c.-3-17399T>C | ENSP00000379360.3:n.-3-17399T>C | |
| ENST00000420636.5:c.718-17399T>C | ENSP00000396465.1:n.718-17399T>C | |
| ENST00000442504.5:c.1438-17399T>C | ENSP00000406952.1:n.1438-17399T>C | |
| ENST00000448602.5:c.1438-17399T>C | ENSP00000394458.1:n.1438-17399T>C | |
| ENST00000464262.6:n.195-17399T>C | ||
| ENST00000472359.1:n.475-17399T>C | ||
| ENST00000487843.1:n.228-17399T>C | ||
| NM_001039459.2:c.-3-17399T>C | NP_001034548.1:n.-3-17399T>C | |
| NM_001206480.2:c.1438-17399T>C | NP_001193409.1:n.1438-17399T>C | |
| NM_001206482.1:c.1438-17399T>C | NP_001193411.1:n.1438-17399T>C | |
| NM_014800.10:c.1438-17399T>C | NP_055615.8:n.1438-17399T>C | |
| NM_130442.3:c.-3-17399T>C | NP_569709.1:n.-3-17399T>C | |
| NR_038120.1:n.345-17399T>C | ||
| XM_005249919.1:c.1438-17399T>C | XP_005249976.1:n.1438-17399T>C | |
| XM_006715805.1:c.1438-17399T>C | XP_006715868.1:n.1438-17399T>C | |
| XM_011515654.1:c.1438-17399T>C | XP_011513956.1:n.1438-17399T>C | |
| XM_011515655.1:c.1438-17399T>C | XP_011513957.1:n.1438-17399T>C | |
| XM_005249919.3:c.1438-17399T>C | XP_005249976.1:n.1438-17399T>C | |
| XM_011515654.2:c.1438-17399T>C | XP_011513956.1:n.1438-17399T>C | |
| XM_017012839.1:c.1438-17399T>C | XP_016868328.1:n.1438-17399T>C | |
| XM_024447008.1:c.1438-17399T>C | XP_024302776.1:n.1438-17399T>C | |
| XR_001744894.2:n.1787-17399T>C | ||
| NM_001039459.3:c.-3-17399T>C | NP_001034548.1:n.-3-17399T>C | |
| NM_001206482.2:c.1438-17399T>C | NP_001193411.1:n.1438-17399T>C | |
| NM_014800.11:c.1438-17399T>C MANE Select | NP_055615.8:n.1438-17399T>C | |
| NM_130442.4:c.-3-17399T>C | NP_569709.1:n.-3-17399T>C | |
| NR_038120.2:n.212-17399T>C |