Linked Data
dbSNP Id:
rs2373115
gnomAD v2:
11-78091150-C-A
gnomAD v3:
11-78380104-C-A
gnomAD v4:
11-78380104-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78380104C>A , CM000673.2:g.78380104C>A | GRCh38 |
| NC_000011.9:g.78091150C>A , CM000673.1:g.78091150C>A | GRCh37 |
| NC_000011.8:g.77768798C>A | NCBI36 |
| NG_016171.1:g.42719G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361507.5:c.75+37542G>T MANE Select | ENSP00000354952.4:n.75+37542G>T | |
| ENST00000361507.4:c.75+37542G>T | ENSP00000354952.4:n.75+37542G>T | |
| ENST00000526030.1:n.177+37542G>T | ||
| ENST00000528886.5:c.-40+38133G>T | ENSP00000433762.1:n.-40+38133G>T | |
| ENST00000530915.1:c.-127-16001G>T | ENSP00000431868.1:n.-127-16001G>T | |
| ENST00000534823.1:n.126+37542G>T | ||
| NM_080491.2:c.75+37542G>T | NP_536739.1:n.75+37542G>T | |
| XM_006718753.1:c.-127-16001G>T | XP_006718816.1:n.-127-16001G>T | |
| XM_006718753.2:c.-127-16001G>T | XP_006718816.1:n.-127-16001G>T | |
| NM_080491.3:c.75+37542G>T MANE Select | NP_536739.1:n.75+37542G>T |