Linked Data
ClinVar Variation Id:
179382
dbSNP Id:
rs727504831
gnomAD v2:
5-89854733-A-C
gnomAD v3:
5-90558916-A-C
gnomAD v4:
5-90558916-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90558916A>C , CM000667.2:g.90558916A>C | GRCh38 |
| NC_000005.9:g.89854733A>C , CM000667.1:g.89854733A>C | GRCh37 |
| NC_000005.8:g.89890489A>C | NCBI36 |
| NG_007083.1:g.5117A>C | |
| NG_007083.2:g.34573A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.21A>C MANE Select | ENSP00000384582.2:p.Pro7= | |
| ENST00000638316.1:n.231A>C | ||
| ENST00000640109.1:n.117A>C | ||
| ENST00000640281.1:n.80A>C | ||
| ENST00000405460.6:c.21A>C | ENSP00000384582.2:p.Pro7= | |
| ENST00000508842.5:c.34+29401A>C | ENSP00000425936.1:n.34+29401A>C | |
| NM_032119.3:c.21A>C | NP_115495.3:p.Pro7= | |
| NR_003149.1:n.117A>C | ||
| XM_011543675.1:c.21A>C | XP_011541977.1:p.Pro7= | |
| XM_011543676.1:c.21A>C | XP_011541978.1:p.Pro7= | |
| XM_011543678.1:c.21A>C | XP_011541980.1:p.Pro7= | |
| XM_011543679.1:c.21A>C | XP_011541981.1:p.Pro7= | |
| NM_032119.4:c.21A>C MANE Select | NP_115495.3:p.Pro7= | |
| XM_017009963.2:c.21A>C | XP_016865452.1:p.Pro7= | |
| XM_017009964.2:c.21A>C | XP_016865453.1:p.Pro7= | |
| XM_017009966.2:c.21A>C | XP_016865455.1:p.Pro7= | |
| XM_017009967.1:c.21A>C | XP_016865456.1:p.Pro7= | |
| XM_017009968.2:c.21A>C | XP_016865457.1:p.Pro7= | |
| XM_017009969.2:c.21A>C | XP_016865458.1:p.Pro7= | |
| XM_017009970.2:c.21A>C | XP_016865459.1:p.Pro7= | |
| XM_017009971.2:c.21A>C | XP_016865460.1:p.Pro7= | |
| XM_017009974.2:c.21A>C | XP_016865463.1:p.Pro7= | |
| NR_003149.2:n.120A>C |