Linked Data
ClinVar Variation Id:
12516
ClinVar RCV Id:
RCV000013341
dbSNP Id:
rs587776770
PubMed:
PMID:16333834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30688382A>G , CM000665.2:g.30688382A>G | GRCh38 |
| NC_000003.11:g.30729874A>G , CM000665.1:g.30729874A>G | GRCh37 |
| NC_000003.10:g.30704878A>G | NCBI36 |
| NG_007490.1:g.86881A>G , LRG_779:g.86881A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1397-2A>G MANE Select | ENSP00000295754.5:n.1397-2A>G | |
| ENST00000672050.1:n.281-2A>G | ||
| ENST00000672866.1:n.2993-2A>G | ||
| ENST00000673203.1:n.275-2A>G | ||
| ENST00000295754.9:c.1397-2A>G | ENSP00000295754.5:n.1397-2A>G | |
| ENST00000359013.4:c.1472-2A>G | ENSP00000351905.4:n.1472-2A>G | |
| NM_001024847.2:c.1472-2A>G , LRG_779t1:c.1472-2A>G | NP_001020018.1:n.1472-2A>G | |
| NM_003242.5:c.1397-2A>G | NP_003233.4:n.1397-2A>G | |
| XM_011534043.1:c.1424-2A>G | XP_011532345.1:n.1424-2A>G | |
| XM_011534044.1:c.1349-2A>G | XP_011532346.1:n.1349-2A>G | |
| XM_011534045.1:c.1292-2A>G | XP_011532347.1:n.1292-2A>G | |
| XM_011534043.2:c.1424-2A>G | XP_011532345.1:n.1424-2A>G | |
| XM_011534045.3:c.1292-2A>G | XP_011532347.1:n.1292-2A>G | |
| XM_017007106.1:c.1292-2A>G | XP_016862595.1:n.1292-2A>G | |
| NM_003242.6:c.1397-2A>G MANE Select | NP_003233.4:n.1397-2A>G |