Linked Data
dbSNP Id:
rs13230047
gnomAD v2:
7-36961320-C-T
gnomAD v3:
7-36921715-C-T
gnomAD v4:
7-36921715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.36921715C>T , CM000669.2:g.36921715C>T | GRCh38 |
| NC_000007.13:g.36961320C>T , CM000669.1:g.36961320C>T | GRCh37 |
| NC_000007.12:g.36927845C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310758.9:c.1438-26698G>A MANE Select | ENSP00000312185.4:n.1438-26698G>A | |
| ENST00000310758.8:c.1438-26698G>A | ENSP00000312185.4:n.1438-26698G>A | |
| ENST00000396040.6:c.-3-26698G>A | ENSP00000379355.2:n.-3-26698G>A | |
| ENST00000396045.7:c.-3-26698G>A | ENSP00000379360.3:n.-3-26698G>A | |
| ENST00000420636.5:c.718-26698G>A | ENSP00000396465.1:n.718-26698G>A | |
| ENST00000442504.5:c.1438-26698G>A | ENSP00000406952.1:n.1438-26698G>A | |
| ENST00000448602.5:c.1438-26698G>A | ENSP00000394458.1:n.1438-26698G>A | |
| ENST00000464262.6:n.195-26698G>A | ||
| ENST00000472359.1:n.475-26698G>A | ||
| ENST00000487843.1:n.228-26698G>A | ||
| NM_001039459.2:c.-3-26698G>A | NP_001034548.1:n.-3-26698G>A | |
| NM_001206480.2:c.1438-26698G>A | NP_001193409.1:n.1438-26698G>A | |
| NM_001206482.1:c.1438-26698G>A | NP_001193411.1:n.1438-26698G>A | |
| NM_014800.10:c.1438-26698G>A | NP_055615.8:n.1438-26698G>A | |
| NM_130442.3:c.-3-26698G>A | NP_569709.1:n.-3-26698G>A | |
| NR_038120.1:n.345-26698G>A | ||
| XM_005249919.1:c.1438-26698G>A | XP_005249976.1:n.1438-26698G>A | |
| XM_006715805.1:c.1438-26698G>A | XP_006715868.1:n.1438-26698G>A | |
| XM_011515654.1:c.1438-26698G>A | XP_011513956.1:n.1438-26698G>A | |
| XM_011515655.1:c.1438-26698G>A | XP_011513957.1:n.1438-26698G>A | |
| XM_005249919.3:c.1438-26698G>A | XP_005249976.1:n.1438-26698G>A | |
| XM_011515654.2:c.1438-26698G>A | XP_011513956.1:n.1438-26698G>A | |
| XM_017012839.1:c.1438-26698G>A | XP_016868328.1:n.1438-26698G>A | |
| XM_024447008.1:c.1438-26698G>A | XP_024302776.1:n.1438-26698G>A | |
| XR_001744894.2:n.1787-26698G>A | ||
| NM_001039459.3:c.-3-26698G>A | NP_001034548.1:n.-3-26698G>A | |
| NM_001206482.2:c.1438-26698G>A | NP_001193411.1:n.1438-26698G>A | |
| NM_014800.11:c.1438-26698G>A MANE Select | NP_055615.8:n.1438-26698G>A | |
| NM_130442.4:c.-3-26698G>A | NP_569709.1:n.-3-26698G>A | |
| NR_038120.2:n.212-26698G>A |