Linked Data
ClinVar Variation Id:
380935
ClinVar RCV Id:
RCV000439017
dbSNP Id:
rs25526
ExAC:
6:30690816 C / T
gnomAD v2:
6-30690816-C-T
gnomAD v3:
6-30723039-C-T
gnomAD v4:
6-30723039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30723039C>T , CM000668.2:g.30723039C>T | GRCh38 |
| NC_000006.11:g.30690816C>T , CM000668.1:g.30690816C>T | GRCh37 |
| NC_000006.10:g.30798795C>T | NCBI36 |
| NG_034142.1:g.7839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327892.13:c.277+11C>T MANE Select | ENSP00000339001.7:n.277+11C>T | |
| ENST00000680530.1:n.1139+11C>T | ||
| ENST00000681421.1:n.1343+11C>T | ||
| ENST00000681435.1:c.61+11C>T | ENSP00000506665.1:n.61+11C>T | |
| ENST00000327892.12:c.277+11C>T | ENSP00000339001.7:n.277+11C>T | |
| ENST00000330914.7:c.61+11C>T | ENSP00000365578.2:n.61+11C>T | |
| ENST00000396384.1:c.61+11C>T | ENSP00000379668.1:n.61+11C>T | |
| ENST00000396389.5:c.223+11C>T | ENSP00000379672.1:n.223+11C>T | |
| NM_001293212.1:c.337+11C>T | NP_001280141.1:n.337+11C>T | |
| NM_001293213.1:c.277+11C>T | NP_001280142.1:n.277+11C>T | |
| NM_001293214.1:c.145+11C>T | NP_001280143.1:n.145+11C>T | |
| NM_001293215.1:c.61+11C>T | NP_001280144.1:n.61+11C>T | |
| NM_001293216.1:c.61+11C>T | NP_001280145.1:n.61+11C>T | |
| NM_178014.3:c.277+11C>T | NP_821133.1:n.277+11C>T | |
| NR_120608.1:n.583+11C>T | ||
| NM_178014.4:c.277+11C>T MANE Select | NP_821133.1:n.277+11C>T | |
| NM_001293212.2:c.337+11C>T | NP_001280141.1:n.337+11C>T | |
| NM_001293213.2:c.277+11C>T | NP_001280142.1:n.277+11C>T | |
| NM_001293214.2:c.145+11C>T | NP_001280143.1:n.145+11C>T | |
| NM_001293215.2:c.61+11C>T | NP_001280144.1:n.61+11C>T | |
| NM_001293216.2:c.61+11C>T | NP_001280145.1:n.61+11C>T | |
| NR_120608.2:n.432+11C>T |