Linked Data
ClinVar Variation Id:
2933435
ClinVar RCV Id:
RCV003790553
dbSNP Id:
rs1272711011
gnomAD v2:
12-102179776-T-C
gnomAD v3:
12-101785998-T-C
gnomAD v4:
12-101785998-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101785998T>C , CM000674.2:g.101785998T>C | GRCh38 |
| NC_000012.11:g.102179776T>C , CM000674.1:g.102179776T>C | GRCh37 |
| NC_000012.10:g.100703907T>C | NCBI36 |
| NG_021243.1:g.49870A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.571+14A>G MANE Select | ENSP00000299314.7:n.571+14A>G | |
| ENST00000299314.11:c.571+14A>G | ENSP00000299314.7:n.571+14A>G | |
| ENST00000549940.5:c.571+14A>G | ENSP00000449150.1:n.571+14A>G | |
| ENST00000550352.1:n.379A>G | ||
| ENST00000552681.1:c.205+14A>G | ENSP00000449217.1:n.205+14A>G | |
| NM_024312.4:c.571+14A>G | NP_077288.2:n.571+14A>G | |
| XM_006719593.2:c.571+14A>G | XP_006719656.1:n.571+14A>G | |
| XM_011538731.1:c.490+14A>G | XP_011537033.1:n.490+14A>G | |
| XM_006719593.3:c.571+14A>G | XP_006719656.1:n.571+14A>G | |
| XM_011538731.2:c.490+14A>G | XP_011537033.1:n.490+14A>G | |
| XM_017019961.1:c.355+14A>G | XP_016875450.1:n.355+14A>G | |
| XM_017019962.2:c.-780+14A>G | XP_016875451.1:n.-780+14A>G | |
| NM_024312.5:c.571+14A>G MANE Select | NP_077288.2:n.571+14A>G |