Linked Data
ClinVar Variation Id:
192187
ClinVar RCV Id:
RCV000172754
dbSNP Id:
rs75992359
ExAC:
6:112535201 C / T
gnomAD v2:
6-112535201-C-T
gnomAD v3:
6-112214000-C-T
gnomAD v4:
6-112214000-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112214000C>T , CM000668.2:g.112214000C>T | GRCh38 |
| NC_000006.11:g.112535201C>T , CM000668.1:g.112535201C>T | GRCh37 |
| NC_000006.10:g.112641894C>T | NCBI36 |
| NG_008209.1:g.45628G>A , LRG_433:g.45628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.297+2368G>A MANE Select | ENSP00000230538.7:n.297+2368G>A | |
| ENST00000389463.9:c.297+2368G>A | ENSP00000374114.4:n.297+2368G>A | |
| ENST00000230538.11:c.297+2368G>A | ENSP00000230538.7:n.297+2368G>A | |
| ENST00000389463.8:c.297+2368G>A | ENSP00000374114.4:n.297+2368G>A | |
| ENST00000423735.2:n.82+2368G>A | ||
| ENST00000424408.6:c.297+2368G>A | ENSP00000416470.2:n.297+2368G>A | |
| ENST00000431543.6:c.368G>A | ENSP00000412136.2:p.Arg123Lys | |
| ENST00000519932.5:c.297+2368G>A | ENSP00000428583.1:n.297+2368G>A | |
| ENST00000521398.5:c.297+2368G>A | ENSP00000430336.1:n.297+2368G>A | |
| ENST00000522006.5:c.297+2368G>A | ENSP00000429488.1:n.297+2368G>A | |
| ENST00000524032.5:n.221+2368G>A | ||
| NM_001105206.2:c.297+2368G>A | NP_001098676.2:n.297+2368G>A | |
| NM_001105207.2:c.297+2368G>A | NP_001098677.2:n.297+2368G>A | |
| NM_002290.4:c.297+2368G>A | NP_002281.3:n.297+2368G>A | |
| XM_005266983.3:c.297+2368G>A | XP_005267040.2:n.297+2368G>A | |
| XM_005266984.3:c.297+2368G>A | XP_005267041.2:n.297+2368G>A | |
| XM_011535821.1:c.297+2368G>A | XP_011534123.1:n.297+2368G>A | |
| XM_005266983.4:c.297+2368G>A | XP_005267040.2:n.297+2368G>A | |
| XM_005266984.4:c.297+2368G>A | XP_005267041.2:n.297+2368G>A | |
| XM_017010854.2:c.297+2368G>A | XP_016866343.1:n.297+2368G>A | |
| XR_001743406.2:n.568+2368G>A | ||
| XR_001743407.2:n.568+2368G>A | ||
| NM_001105206.3:c.297+2368G>A MANE Select | NP_001098676.2:n.297+2368G>A | |
| NM_001105207.3:c.297+2368G>A | NP_001098677.2:n.297+2368G>A | |
| NM_002290.5:c.297+2368G>A | NP_002281.3:n.297+2368G>A |