Linked Data
ClinVar Variation Id:
1144044
ClinVar RCV Id:
RCV001482432
dbSNP Id:
rs908032937
gnomAD v2:
11-67815105-C-T
gnomAD v3:
11-68047638-C-T
gnomAD v4:
11-68047638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047638C>T , CM000673.2:g.68047638C>T | GRCh38 |
| NC_000011.9:g.67815105C>T , CM000673.1:g.67815105C>T | GRCh37 |
| NC_000011.8:g.67571681C>T | NCBI36 |
| NG_007878.1:g.13623C>T , LRG_115:g.13623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.835-9C>T | ENSP00000513629.1:n.835-9C>T | |
| ENST00000698255.1:c.1255-9C>T | ENSP00000513630.1:n.1255-9C>T | |
| ENST00000698256.1:c.772-9C>T | ||
| ENST00000698257.1:n.724-9C>T | ||
| ENST00000698258.1:n.355C>T | ||
| ENST00000698259.1:n.130-9C>T | ||
| ENST00000265686.8:c.1306-9C>T MANE Select | ENSP00000265686.3:n.1306-9C>T | |
| ENST00000265686.7:c.1306-9C>T | ENSP00000265686.3:n.1306-9C>T | |
| ENST00000525516.1:n.100-9C>T | ||
| ENST00000525724.5:n.618-9C>T | ||
| ENST00000528981.5:c.458-9C>T | ||
| ENST00000529364.1:c.717-9C>T | ||
| ENST00000532635.5:c.658-9C>T | ENSP00000434407.1:n.658-9C>T | |
| ENST00000533005.5:n.342-9C>T | ||
| NM_006019.3:c.1306-9C>T | NP_006010.2:n.1306-9C>T | |
| NM_006053.3:c.658-9C>T | NP_006044.1:n.658-9C>T | |
| XM_005273709.2:c.1306-9C>T | XP_005273766.1:n.1306-9C>T | |
| XM_011544726.1:c.1306-9C>T | XP_011543028.1:n.1306-9C>T | |
| XM_011544727.1:c.1306-9C>T | XP_011543029.1:n.1306-9C>T | |
| XM_011544728.1:c.1306-9C>T | XP_011543030.1:n.1306-9C>T | |
| XM_011544729.1:c.1322-9C>T | XP_011543031.1:n.1322-9C>T | |
| XR_949754.1:n.1310-9C>T | ||
| NM_001351059.1:c.412-9C>T | NP_001337988.1:n.412-9C>T | |
| XM_024448320.1:c.1322-9C>T | XP_024304088.1:n.1322-9C>T | |
| XM_024448321.1:c.1322-9C>T | XP_024304089.1:n.1322-9C>T | |
| XM_024448322.1:c.1322-9C>T | XP_024304090.1:n.1322-9C>T | |
| XM_024448323.1:c.1322-9C>T | XP_024304091.1:n.1322-9C>T | |
| XM_024448324.1:c.1322-9C>T | XP_024304092.1:n.1322-9C>T | |
| XR_001747721.2:n.1430-9C>T | ||
| XR_001747722.1:n.1443-9C>T | ||
| XR_001747723.2:n.1443-9C>T | ||
| XR_002957115.1:n.1444-9C>T | ||
| NM_006019.4:c.1306-9C>T MANE Select | NP_006010.2:n.1306-9C>T | |
| NM_001351059.2:c.412-9C>T | NP_001337988.1:n.412-9C>T | |
| NM_006053.4:c.658-9C>T | NP_006044.1:n.658-9C>T |