Linked Data
dbSNP Id:
rs10793294
gnomAD v2:
11-77996403-C-A
gnomAD v3:
11-78285357-C-A
gnomAD v4:
11-78285357-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78285357C>A , CM000673.2:g.78285357C>A | GRCh38 |
| NC_000011.9:g.77996403C>A , CM000673.1:g.77996403C>A | GRCh37 |
| NC_000011.8:g.77674051C>A | NCBI36 |
| NG_016171.1:g.137466G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361507.5:c.76-4456G>T MANE Select | ENSP00000354952.4:n.76-4456G>T | |
| ENST00000340149.6:c.-39-4456G>T | ENSP00000343959.2:n.-39-4456G>T | |
| ENST00000361507.4:c.76-4456G>T | ENSP00000354952.4:n.76-4456G>T | |
| ENST00000526030.1:n.255-4456G>T | ||
| ENST00000528886.5:c.-39-4456G>T | ENSP00000433762.1:n.-39-4456G>T | |
| ENST00000530915.1:c.-39-4456G>T | ENSP00000431868.1:n.-39-4456G>T | |
| ENST00000534823.1:n.127-4456G>T | ||
| NM_012296.3:c.-39-4456G>T | NP_036428.1:n.-39-4456G>T | |
| NM_080491.2:c.76-4456G>T | NP_536739.1:n.76-4456G>T | |
| XM_006718753.1:c.-39-4456G>T | XP_006718816.1:n.-39-4456G>T | |
| XM_011545408.1:c.-341-4456G>T | XP_011543710.1:n.-341-4456G>T | |
| XM_006718753.2:c.-39-4456G>T | XP_006718816.1:n.-39-4456G>T | |
| XM_011545408.3:c.-341-4456G>T | XP_011543710.1:n.-341-4456G>T | |
| XM_024448782.1:c.22-4456G>T | XP_024304550.1:n.22-4456G>T | |
| NM_080491.3:c.76-4456G>T MANE Select | NP_536739.1:n.76-4456G>T | |
| NM_012296.4:c.-39-4456G>T | NP_036428.1:n.-39-4456G>T |