Linked Data
ClinVar Variation Id:
2906593
ClinVar RCV Id:
RCV003764343
dbSNP Id:
rs1754569068
gnomAD v4:
5-148131391-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131391T>C , CM000667.2:g.148131391T>C | GRCh38 |
| NC_000005.9:g.147510954T>C , CM000667.1:g.147510954T>C | GRCh37 |
| NC_000005.8:g.147491147T>C | NCBI36 |
| NG_009633.1:g.72420T>C , LRG_110:g.72420T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.3095+2T>C MANE Select | ENSP00000256084.7:n.3095+2T>C | |
| ENST00000256084.7:c.3095+2T>C | ENSP00000256084.7:n.3095+2T>C | |
| ENST00000359874.7:c.3185+2T>C | ENSP00000352936.3:n.3185+2T>C | |
| NM_001127698.1:c.3185+2T>C | NP_001121170.1:n.3185+2T>C | |
| NM_006846.3:c.3095+2T>C , LRG_110t1:c.3095+2T>C | NP_006837.2:n.3095+2T>C | |
| XM_011537550.1:c.3128+2T>C | XP_011535852.1:n.3128+2T>C | |
| XM_011537551.1:c.3101+2T>C | XP_011535853.1:n.3101+2T>C | |
| XM_011537551.2:c.3101+2T>C | XP_011535853.1:n.3101+2T>C | |
| NM_001127698.2:c.3185+2T>C | NP_001121170.1:n.3185+2T>C | |
| NM_006846.4:c.3095+2T>C MANE Select | NP_006837.2:n.3095+2T>C |