Linked Data
ClinVar Variation Id:
44652
ClinVar RCV Id:
RCV000037729
RCV000249482
RCV000287055
RCV000397888
RCV000617141
RCV001094866
RCV003148641
dbSNP Id:
rs2228048
ExAC:
3:30713842 C / T
gnomAD v2:
3-30713842-C-T
gnomAD v3:
3-30672350-C-T
gnomAD v4:
3-30672350-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672350C>T , CM000665.2:g.30672350C>T | GRCh38 |
| NC_000003.11:g.30713842C>T , CM000665.1:g.30713842C>T | GRCh37 |
| NC_000003.10:g.30688846C>T | NCBI36 |
| NG_007490.1:g.70849C>T , LRG_779:g.70849C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1167C>T MANE Select | ENSP00000295754.5:p.Asn389= | |
| ENST00000672866.1:n.2763C>T | ||
| ENST00000295754.9:c.1167C>T | ENSP00000295754.5:p.Asn389= | |
| ENST00000359013.4:c.1242C>T | ENSP00000351905.4:p.Asn414= | |
| NM_001024847.2:c.1242C>T , LRG_779t1:c.1242C>T | NP_001020018.1:p.Asn414= | |
| NM_003242.5:c.1167C>T | NP_003233.4:p.Asn389= | |
| XM_011534043.1:c.1194C>T | XP_011532345.1:p.Asn398= | |
| XM_011534044.1:c.1119C>T | XP_011532346.1:p.Asn373= | |
| XM_011534045.1:c.1062C>T | XP_011532347.1:p.Asn354= | |
| XM_011534043.2:c.1194C>T | XP_011532345.1:p.Asn398= | |
| XM_011534045.3:c.1062C>T | XP_011532347.1:p.Asn354= | |
| XM_017007106.1:c.1062C>T | XP_016862595.1:p.Asn354= | |
| NM_003242.6:c.1167C>T MANE Select | NP_003233.4:p.Asn389= |