Linked Data
ClinVar Variation Id:
2904522
ClinVar RCV Id:
RCV003627346
dbSNP Id:
rs757724700
gnomAD v4:
13-48476859-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476859G>T , CM000675.2:g.48476859G>T | GRCh38 |
| NC_000013.10:g.49050995G>T , CM000675.1:g.49050995G>T | GRCh37 |
| NC_000013.9:g.47948996G>T | NCBI36 |
| NG_009009.1:g.178113G>T , LRG_517:g.178113G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2663+16G>T MANE Select | ENSP00000267163.4:n.2663+16G>T | |
| ENST00000643064.1:c.194+95416G>T | ||
| ENST00000650461.1:c.2663+16G>T | ENSP00000497193.1:n.2663+16G>T | |
| ENST00000267163.4:c.2663+16G>T | ENSP00000267163.4:n.2663+16G>T | |
| ENST00000484879.1:n.397+16G>T | ||
| ENST00000531171.5:n.266+16G>T | ||
| NM_000321.2:c.2663+16G>T , LRG_517t1:c.2663+16G>T | NP_000312.2:n.2663+16G>T | |
| XM_011535171.1:c.2402+16G>T | XP_011533473.1:n.2402+16G>T | |
| XM_011535171.2:c.2402+16G>T | XP_011533473.1:n.2402+16G>T | |
| NM_000321.3:c.2663+16G>T MANE Select | NP_000312.2:n.2663+16G>T |