Linked Data
ClinVar Variation Id:
305809
dbSNP Id:
rs372404641
ExAC:
11:67816477 G / A
gnomAD v2:
11-67816477-G-A
gnomAD v3:
11-68049010-G-A
gnomAD v4:
11-68049010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68049010G>A , CM000673.2:g.68049010G>A | GRCh38 |
| NC_000011.9:g.67816477G>A , CM000673.1:g.67816477G>A | GRCh37 |
| NC_000011.8:g.67573053G>A | NCBI36 |
| NG_007878.1:g.14995G>A , LRG_115:g.14995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.298+13G>A | ||
| ENST00000698254.1:c.1202+13G>A | ENSP00000513629.1:n.1202+13G>A | |
| ENST00000698255.1:c.1622+13G>A | ENSP00000513630.1:n.1622+13G>A | |
| ENST00000698256.1:c.1139+13G>A | ||
| ENST00000698257.1:n.1091+13G>A | ||
| ENST00000698258.1:n.808+13G>A | ||
| ENST00000698259.1:n.574+13G>A | ||
| ENST00000265686.8:c.1673+13G>A MANE Select | ENSP00000265686.3:n.1673+13G>A | |
| ENST00000265686.7:c.1673+13G>A | ENSP00000265686.3:n.1673+13G>A | |
| ENST00000525724.5:n.985+13G>A | ||
| ENST00000532635.5:c.1025+13G>A | ENSP00000434407.1:n.1025+13G>A | |
| ENST00000533005.5:n.786+13G>A | ||
| NM_006019.3:c.1673+13G>A | NP_006010.2:n.1673+13G>A | |
| NM_006053.3:c.1025+13G>A | NP_006044.1:n.1025+13G>A | |
| XM_005273709.2:c.1673+13G>A | XP_005273766.1:n.1673+13G>A | |
| XM_011544726.1:c.1673+13G>A | XP_011543028.1:n.1673+13G>A | |
| XM_011544727.1:c.1673+13G>A | XP_011543029.1:n.1673+13G>A | |
| XM_011544728.1:c.1673+13G>A | XP_011543030.1:n.1673+13G>A | |
| XR_949754.1:n.1677+13G>A | ||
| NM_001351059.1:c.779+13G>A | NP_001337988.1:n.779+13G>A | |
| XM_024448320.1:c.1766+13G>A | XP_024304088.1:n.1766+13G>A | |
| XM_024448321.1:c.1766+13G>A | XP_024304089.1:n.1766+13G>A | |
| XM_024448322.1:c.1766+13G>A | XP_024304090.1:n.1766+13G>A | |
| XM_024448323.1:c.1766+13G>A | XP_024304091.1:n.1766+13G>A | |
| XM_024448324.1:c.1766+13G>A | XP_024304092.1:n.1766+13G>A | |
| XR_001747721.2:n.1797+13G>A | ||
| XR_001747722.1:n.1810+13G>A | ||
| XR_001747723.2:n.1810+13G>A | ||
| XR_002957115.1:n.1888+13G>A | ||
| NM_006019.4:c.1673+13G>A MANE Select | NP_006010.2:n.1673+13G>A | |
| NM_001351059.2:c.779+13G>A | NP_001337988.1:n.779+13G>A | |
| NM_006053.4:c.1025+13G>A | NP_006044.1:n.1025+13G>A |