Linked Data
ClinVar Variation Id:
509810
ClinVar RCV Id:
RCV000605574
dbSNP Id:
rs763098114
ExAC:
3:30713941 C / T
gnomAD v2:
3-30713941-C-T
gnomAD v4:
3-30672449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672449C>T , CM000665.2:g.30672449C>T | GRCh38 |
| NC_000003.11:g.30713941C>T , CM000665.1:g.30713941C>T | GRCh37 |
| NC_000003.10:g.30688945C>T | NCBI36 |
| NG_007490.1:g.70948C>T , LRG_779:g.70948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1254+12C>T MANE Select | ENSP00000295754.5:n.1254+12C>T | |
| ENST00000672866.1:n.2850+12C>T | ||
| ENST00000295754.9:c.1254+12C>T | ENSP00000295754.5:n.1254+12C>T | |
| ENST00000359013.4:c.1329+12C>T | ENSP00000351905.4:n.1329+12C>T | |
| NM_001024847.2:c.1329+12C>T , LRG_779t1:c.1329+12C>T | NP_001020018.1:n.1329+12C>T | |
| NM_003242.5:c.1254+12C>T | NP_003233.4:n.1254+12C>T | |
| XM_011534043.1:c.1281+12C>T | XP_011532345.1:n.1281+12C>T | |
| XM_011534044.1:c.1206+12C>T | XP_011532346.1:n.1206+12C>T | |
| XM_011534045.1:c.1149+12C>T | XP_011532347.1:n.1149+12C>T | |
| XM_011534043.2:c.1281+12C>T | XP_011532345.1:n.1281+12C>T | |
| XM_011534045.3:c.1149+12C>T | XP_011532347.1:n.1149+12C>T | |
| XM_017007106.1:c.1149+12C>T | XP_016862595.1:n.1149+12C>T | |
| NM_003242.6:c.1254+12C>T MANE Select | NP_003233.4:n.1254+12C>T |