Linked Data
ClinVar Variation Id:
380065
ClinVar RCV Id:
RCV000420299
dbSNP Id:
rs2303129
ExAC:
5:78324482 T / C
gnomAD v2:
5-78324482-T-C
gnomAD v3:
5-79028659-T-C
gnomAD v4:
5-79028659-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79028659T>C , CM000667.2:g.79028659T>C | GRCh38 |
| NC_000005.9:g.78324482T>C , CM000667.1:g.78324482T>C | GRCh37 |
| NC_000005.8:g.78360238T>C | NCBI36 |
| NG_012164.1:g.45968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.1815-9A>G MANE Select | ENSP00000255189.3:n.1815-9A>G | |
| ENST00000255189.7:c.1815-9A>G | ENSP00000255189.3:n.1815-9A>G | |
| ENST00000517853.5:c.*577-9A>G | ENSP00000428995.1:n.*577-9A>G | |
| ENST00000518477.5:c.*1049-9A>G | ENSP00000427834.1:n.*1049-9A>G | |
| ENST00000523201.1:n.220-9A>G | ||
| ENST00000523732.1:c.1332-9A>G | ENSP00000430972.1:n.1332-9A>G | |
| NM_013391.3:c.1815-9A>G MANE Select | NP_037523.2:n.1815-9A>G | |
| NR_104002.1:n.1400-9A>G | ||
| NR_104003.1:n.952-9A>G | ||
| XM_006714597.1:c.1815-9A>G | XP_006714660.1:n.1815-9A>G | |
| XM_011543354.1:c.1815-9A>G | XP_011541656.1:n.1815-9A>G | |
| XM_011543355.1:c.1815-9A>G | XP_011541657.1:n.1815-9A>G | |
| XM_006714597.2:c.1815-9A>G | XP_006714660.1:n.1815-9A>G | |
| XM_011543355.2:c.1815-9A>G | XP_011541657.1:n.1815-9A>G | |
| NR_104002.2:n.1400-9A>G | ||
| NR_104003.2:n.952-9A>G | ||
| NR_104002.3:n.1400-9A>G | ||
| NR_104003.3:n.952-9A>G |