Linked Data
ClinVar Variation Id:
383485
ClinVar RCV Id:
RCV000441735
dbSNP Id:
rs75001541
ExAC:
5:78328682 T / C
gnomAD v2:
5-78328682-T-C
gnomAD v3:
5-79032859-T-C
gnomAD v4:
5-79032859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79032859T>C , CM000667.2:g.79032859T>C | GRCh38 |
| NC_000005.9:g.78328682T>C , CM000667.1:g.78328682T>C | GRCh37 |
| NC_000005.8:g.78364438T>C | NCBI36 |
| NG_012164.1:g.41768A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.1364-19A>G MANE Select | ENSP00000255189.3:n.1364-19A>G | |
| ENST00000255189.7:c.1364-19A>G | ENSP00000255189.3:n.1364-19A>G | |
| ENST00000517853.5:c.*126-19A>G | ENSP00000428995.1:n.*126-19A>G | |
| ENST00000518477.5:c.*598-19A>G | ENSP00000427834.1:n.*598-19A>G | |
| ENST00000523732.1:c.881-19A>G | ENSP00000430972.1:n.881-19A>G | |
| NM_013391.3:c.1364-19A>G MANE Select | NP_037523.2:n.1364-19A>G | |
| NR_104002.1:n.949-19A>G | ||
| NR_104003.1:n.501-19A>G | ||
| XM_006714597.1:c.1364-19A>G | XP_006714660.1:n.1364-19A>G | |
| XM_011543354.1:c.1364-19A>G | XP_011541656.1:n.1364-19A>G | |
| XM_011543355.1:c.1364-19A>G | XP_011541657.1:n.1364-19A>G | |
| XM_006714597.2:c.1364-19A>G | XP_006714660.1:n.1364-19A>G | |
| XM_011543355.2:c.1364-19A>G | XP_011541657.1:n.1364-19A>G | |
| NR_104002.2:n.949-19A>G | ||
| NR_104003.2:n.501-19A>G | ||
| NR_104002.3:n.949-19A>G | ||
| NR_104003.3:n.501-19A>G |