Linked Data
ClinVar Variation Id:
1210667
ClinVar RCV Id:
RCV001581389
dbSNP Id:
rs34018970
gnomAD v2:
5-1260331-T-C
gnomAD v3:
5-1260216-T-C
gnomAD v4:
5-1260216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1260216T>C , CM000667.2:g.1260216T>C | GRCh38 |
| NC_000005.9:g.1260331T>C , CM000667.1:g.1260331T>C | GRCh37 |
| NC_000005.8:g.1313331T>C | NCBI36 |
| NG_009265.1:g.39832A>G , LRG_343:g.39832A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2970+258A>G MANE Select | ENSP00000309572.5:n.2970+258A>G | |
| ENST00000656021.1:c.*2516+258A>G | ENSP00000499759.1:n.*2516+258A>G | |
| ENST00000667927.1:n.258+258A>G | ||
| ENST00000310581.9:c.2970+258A>G | ENSP00000309572.5:n.2970+258A>G | |
| ENST00000334602.10:c.2781+258A>G | ENSP00000334346.6:n.2781+258A>G | |
| ENST00000460137.6:c.2563+258A>G | ENSP00000425003.1:n.2563+258A>G | |
| ENST00000484238.6:n.1412+258A>G | ||
| NM_001193376.1:c.2781+258A>G | NP_001180305.1:n.2781+258A>G | |
| NM_198253.2:c.2970+258A>G , LRG_343t1:c.2970+258A>G | NP_937983.2:n.2970+258A>G | |
| XM_011514104.1:c.1440+258A>G | XP_011512406.1:n.1440+258A>G | |
| XM_011514105.1:c.1326+258A>G | XP_011512407.1:n.1326+258A>G | |
| XM_011514106.1:c.1326+258A>G | XP_011512408.1:n.1326+258A>G | |
| NR_149162.1:n.2657+258A>G | ||
| NR_149163.1:n.2621+258A>G | ||
| NM_001193376.2:c.2781+258A>G | NP_001180305.1:n.2781+258A>G | |
| NM_198253.3:c.2970+258A>G MANE Select | NP_937983.2:n.2970+258A>G | |
| NR_149162.2:n.2678+258A>G | ||
| NR_149163.2:n.2642+258A>G | ||
| NM_001193376.3:c.2781+258A>G | NP_001180305.1:n.2781+258A>G | |
| NR_149162.3:n.2678+258A>G | ||
| NR_149163.3:n.2642+258A>G |