Linked Data
ClinVar Variation Id:
2936278
ClinVar RCV Id:
RCV003796564
dbSNP Id:
rs757672548
ExAC:
11:68682273 C / T
gnomAD v2:
11-68682273-C-T
gnomAD v4:
11-68914805-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914805C>T , CM000673.2:g.68914805C>T | GRCh38 |
| NC_000011.9:g.68682273C>T , CM000673.1:g.68682273C>T | GRCh37 |
| NC_000011.8:g.68438849C>T | NCBI36 |
| NG_007976.1:g.15955C>T , LRG_250:g.15955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.712-18C>T MANE Select | ENSP00000255078.4:n.712-18C>T | |
| ENST00000539224.2:c.841-18C>T | ||
| ENST00000674955.1:c.712-18C>T | ENSP00000502463.1:n.712-18C>T | |
| ENST00000675118.1:c.59-18C>T | ||
| ENST00000675615.1:c.712-18C>T | ENSP00000502413.1:n.712-18C>T | |
| ENST00000675683.1:c.99-18C>T | ||
| ENST00000676173.1:n.756-18C>T | ||
| ENST00000676228.1:c.*35-18C>T | ENSP00000502375.1:n.*35-18C>T | |
| ENST00000676239.1:n.26-18C>T | ||
| ENST00000255078.7:c.712-18C>T | ENSP00000255078.3:n.712-18C>T | |
| ENST00000539224.1:c.*35-18C>T | ENSP00000440465.1:n.*35-18C>T | |
| NM_002180.2:c.712-18C>T , LRG_250t1:c.712-18C>T | NP_002171.2:n.712-18C>T | |
| XM_005273974.2:c.-300-18C>T | XP_005274031.1:n.-300-18C>T | |
| XM_005273976.1:c.712-18C>T | XP_005274033.1:n.712-18C>T | |
| XR_247198.1:n.814-18C>T | ||
| XR_949903.1:n.814-18C>T | ||
| XM_005273976.2:c.712-18C>T | XP_005274033.1:n.712-18C>T | |
| XM_017017669.2:c.-300-18C>T | XP_016873158.1:n.-300-18C>T | |
| XM_017017670.2:c.-300-18C>T | XP_016873159.1:n.-300-18C>T | |
| XM_017017671.2:c.712-18C>T | XP_016873160.1:n.712-18C>T | |
| XR_949903.3:n.810-18C>T | ||
| NM_002180.3:c.712-18C>T MANE Select | NP_002171.2:n.712-18C>T |