Linked Data
ClinVar Variation Id:
736786
dbSNP Id:
rs368136779
ExAC:
11:67815046 G / C
gnomAD v2:
11-67815046-G-C
gnomAD v3:
11-68047579-G-C
gnomAD v4:
11-68047579-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047579G>C , CM000673.2:g.68047579G>C | GRCh38 |
| NC_000011.9:g.67815046G>C , CM000673.1:g.67815046G>C | GRCh37 |
| NC_000011.8:g.67571622G>C | NCBI36 |
| NG_007878.1:g.13564G>C , LRG_115:g.13564G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.834+7G>C | ENSP00000513629.1:n.834+7G>C | |
| ENST00000698255.1:c.1254+7G>C | ENSP00000513630.1:n.1254+7G>C | |
| ENST00000698256.1:c.771+7G>C | ||
| ENST00000698257.1:n.723+7G>C | ||
| ENST00000698258.1:n.296G>C | ||
| ENST00000698259.1:n.129+7G>C | ||
| ENST00000265686.8:c.1305+7G>C MANE Select | ENSP00000265686.3:n.1305+7G>C | |
| ENST00000265686.7:c.1305+7G>C | ENSP00000265686.3:n.1305+7G>C | |
| ENST00000525516.1:n.99+7G>C | ||
| ENST00000525724.5:n.617+7G>C | ||
| ENST00000528981.5:c.457+7G>C | ||
| ENST00000529364.1:c.716+7G>C | ||
| ENST00000532635.5:c.657+7G>C | ENSP00000434407.1:n.657+7G>C | |
| ENST00000533005.5:n.341+7G>C | ||
| NM_006019.3:c.1305+7G>C | NP_006010.2:n.1305+7G>C | |
| NM_006053.3:c.657+7G>C | NP_006044.1:n.657+7G>C | |
| XM_005273709.2:c.1305+7G>C | XP_005273766.1:n.1305+7G>C | |
| XM_011544726.1:c.1305+7G>C | XP_011543028.1:n.1305+7G>C | |
| XM_011544727.1:c.1305+7G>C | XP_011543029.1:n.1305+7G>C | |
| XM_011544728.1:c.1305+7G>C | XP_011543030.1:n.1305+7G>C | |
| XM_011544729.1:c.1321+7G>C | XP_011543031.1:n.1321+7G>C | |
| XR_949754.1:n.1309+7G>C | ||
| NM_001351059.1:c.411+7G>C | NP_001337988.1:n.411+7G>C | |
| XM_024448320.1:c.1321+7G>C | XP_024304088.1:n.1321+7G>C | |
| XM_024448321.1:c.1321+7G>C | XP_024304089.1:n.1321+7G>C | |
| XM_024448322.1:c.1321+7G>C | XP_024304090.1:n.1321+7G>C | |
| XM_024448323.1:c.1321+7G>C | XP_024304091.1:n.1321+7G>C | |
| XM_024448324.1:c.1321+7G>C | XP_024304092.1:n.1321+7G>C | |
| XR_001747721.2:n.1429+7G>C | ||
| XR_001747722.1:n.1442+7G>C | ||
| XR_001747723.2:n.1442+7G>C | ||
| XR_002957115.1:n.1443+7G>C | ||
| NM_006019.4:c.1305+7G>C MANE Select | NP_006010.2:n.1305+7G>C | |
| NM_001351059.2:c.411+7G>C | NP_001337988.1:n.411+7G>C | |
| NM_006053.4:c.657+7G>C | NP_006044.1:n.657+7G>C |