Linked Data
ClinVar Variation Id:
2193952
dbSNP Id:
rs772030142
ExAC:
5:37052560 C / T
gnomAD v2:
5-37052560-C-T
gnomAD v3:
5-37052458-C-T
gnomAD v4:
5-37052458-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37052458C>T , CM000667.2:g.37052458C>T | GRCh38 |
| NC_000005.9:g.37052560C>T , CM000667.1:g.37052560C>T | GRCh37 |
| NC_000005.8:g.37088317C>T | NCBI36 |
| NG_006987.1:g.180576C>T | |
| NG_006987.2:g.180576C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.7155C>T MANE Select | ENSP00000282516.8:p.Asp2385= | |
| ENST00000652901.1:c.7155C>T | ENSP00000499536.1:p.Asp2385= | |
| ENST00000282516.12:c.7155C>T | ENSP00000282516.8:p.Asp2385= | |
| ENST00000448238.2:c.7155C>T | ENSP00000406266.2:p.Asp2385= | |
| ENST00000514335.1:n.1037C>T | ||
| ENST00000621733.1:c.1-12120C>T | ENSP00000480694.1:n.1-12120C>T | |
| NM_015384.4:c.7155C>T | NP_056199.2:p.Asp2385= | |
| NM_133433.3:c.7155C>T | NP_597677.2:p.Asp2385= | |
| XM_005248280.2:c.7155C>T | XP_005248337.1:p.Asp2385= | |
| XM_005248282.3:c.6411C>T | XP_005248339.2:p.Asp2137= | |
| XM_006714467.2:c.7155C>T | XP_006714530.1:p.Asp2385= | |
| XM_006714468.1:c.6957C>T | XP_006714531.1:p.Asp2319= | |
| XM_011514014.1:c.6774C>T | XP_011512316.1:p.Asp2258= | |
| XM_011514015.1:c.7155C>T | XP_011512317.1:p.Asp2385= | |
| XM_005248280.3:c.7155C>T | XP_005248337.1:p.Asp2385= | |
| XM_005248282.5:c.6495C>T | XP_005248339.3:p.Asp2165= | |
| XM_006714468.2:c.6957C>T | XP_006714531.1:p.Asp2319= | |
| XM_017009329.1:c.7155C>T | XP_016864818.1:p.Asp2385= | |
| XM_017009330.2:c.5538C>T | XP_016864819.1:p.Asp1846= | |
| XM_017009331.1:c.5529C>T | XP_016864820.1:p.Asp1843= | |
| NM_133433.4:c.7155C>T MANE Select | NP_597677.2:p.Asp2385= | |
| NM_015384.5:c.7155C>T | NP_056199.2:p.Asp2385= |