Linked Data
ClinVar Variation Id:
946
ClinVar RCV Id:
RCV000000996
RCV000790562
RCV001049270
RCV001251276
RCV002243610
RCV002496221
RCV002470702
dbSNP Id:
rs587776526
ExAC:
3:33055804 T / C
gnomAD v2:
3-33055804-T-C
gnomAD v3:
3-33014312-T-C
gnomAD v4:
3-33014312-T-C
PubMed:
PMID:10737981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014312T>C , CM000665.2:g.33014312T>C | GRCh38 |
| NC_000003.11:g.33055804T>C , CM000665.1:g.33055804T>C | GRCh37 |
| NC_000003.10:g.33030808T>C | NCBI36 |
| NG_009005.1:g.87891A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1480-2A>G MANE Select | ENSP00000306920.4:n.1480-2A>G | |
| ENST00000307363.9:c.1480-2A>G | ENSP00000306920.4:n.1480-2A>G | |
| ENST00000307377.12:c.1087-2A>G | ENSP00000305920.8:n.1087-2A>G | |
| ENST00000399402.7:c.1390-2A>G | ENSP00000382333.2:n.1390-2A>G | |
| ENST00000461475.5:n.579-2A>G | ||
| ENST00000497796.5:n.732-2A>G | ||
| NM_000404.2:c.1480-2A>G | NP_000395.2:n.1480-2A>G | |
| NM_000404.3:c.1480-2A>G | NP_000395.2:n.1480-2A>G | |
| NM_001079811.1:c.1390-2A>G | NP_001073279.1:n.1390-2A>G | |
| NM_001079811.2:c.1390-2A>G | NP_001073279.1:n.1390-2A>G | |
| NM_001135602.1:c.1087-2A>G | NP_001129074.1:n.1087-2A>G | |
| NM_001135602.2:c.1087-2A>G | NP_001129074.1:n.1087-2A>G | |
| NM_001317040.1:c.1624-2A>G | NP_001303969.1:n.1624-2A>G | |
| NM_000404.4:c.1480-2A>G MANE Select | NP_000395.3:n.1480-2A>G | |
| NM_001079811.3:c.1390-2A>G | NP_001073279.2:n.1390-2A>G | |
| NM_001135602.3:c.1087-2A>G | NP_001129074.2:n.1087-2A>G | |
| NM_001317040.2:c.1624-2A>G | NP_001303969.2:n.1624-2A>G | |
| NM_001393580.1:c.1480-2A>G | NP_001380509.1:n.1480-2A>G |