Linked Data
ClinVar Variation Id:
384238
ClinVar RCV Id:
RCV000440250
dbSNP Id:
rs762477431
ExAC:
5:78328548 C / T
gnomAD v2:
5-78328548-C-T
gnomAD v3:
5-79032725-C-T
gnomAD v4:
5-79032725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79032725C>T , CM000667.2:g.79032725C>T | GRCh38 |
| NC_000005.9:g.78328548C>T , CM000667.1:g.78328548C>T | GRCh37 |
| NC_000005.8:g.78364304C>T | NCBI36 |
| NG_012164.1:g.41902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.1479G>A MANE Select | ENSP00000255189.3:p.Pro493= | |
| ENST00000255189.7:c.1479G>A | ENSP00000255189.3:p.Pro493= | |
| ENST00000517853.5:c.*241G>A | ENSP00000428995.1:n.*241G>A | |
| ENST00000518477.5:c.*713G>A | ENSP00000427834.1:n.*713G>A | |
| ENST00000523732.1:c.996G>A | ENSP00000430972.1:p.Pro332= | |
| NM_013391.3:c.1479G>A MANE Select | NP_037523.2:p.Pro493= | |
| NR_104002.1:n.1064G>A | ||
| NR_104003.1:n.616G>A | ||
| XM_006714597.1:c.1479G>A | XP_006714660.1:p.Pro493= | |
| XM_011543354.1:c.1479G>A | XP_011541656.1:p.Pro493= | |
| XM_011543355.1:c.1479G>A | XP_011541657.1:p.Pro493= | |
| XM_006714597.2:c.1479G>A | XP_006714660.1:p.Pro493= | |
| XM_011543355.2:c.1479G>A | XP_011541657.1:p.Pro493= | |
| NR_104002.2:n.1064G>A | ||
| NR_104003.2:n.616G>A | ||
| NR_104002.3:n.1064G>A | ||
| NR_104003.3:n.616G>A |