Linked Data
ClinVar Variation Id:
358350
dbSNP Id:
rs138432667
ExAC:
7:103019777 T / C
gnomAD v2:
7-103019777-T-C
gnomAD v3:
7-103379330-T-C
gnomAD v4:
7-103379330-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103379330T>C , CM000669.2:g.103379330T>C | GRCh38 |
| NC_000007.13:g.103019777T>C , CM000669.1:g.103019777T>C | GRCh37 |
| NC_000007.12:g.102807013T>C | NCBI36 |
| NG_023055.1:g.71848A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306312.8:c.1590A>G MANE Select | ENSP00000304783.3:p.Lys530= | |
| ENST00000306312.7:c.1590A>G | ENSP00000304783.3:p.Lys530= | |
| ENST00000339444.10:c.1590A>G | ENSP00000342396.6:p.Lys530= | |
| ENST00000354356.8:c.1590A>G | ENSP00000346325.5:p.Lys530= | |
| ENST00000356767.8:c.971+18602A>G | ENSP00000349210.4:n.971+18602A>G | |
| ENST00000393723.2:c.1494A>G | ENSP00000377324.1:p.Lys498= | |
| ENST00000393727.5:c.1590A>G | ENSP00000377328.1:p.Lys530= | |
| ENST00000393729.5:c.1479A>G | ENSP00000377330.1:p.Lys493= | |
| ENST00000393730.5:c.1494A>G | ENSP00000377331.1:p.Lys498= | |
| ENST00000393735.6:c.1514+9678A>G | ENSP00000377336.2:n.1514+9678A>G | |
| ENST00000423416.5:c.*2A>G | ENSP00000389018.1:n.*2A>G | |
| ENST00000432958.6:c.1494A>G | ENSP00000389733.2:p.Lys498= | |
| ENST00000445809.5:c.*573A>G | ENSP00000396833.1:n.*573A>G | |
| ENST00000454864.5:c.*2A>G | ENSP00000416502.1:n.*2A>G | |
| ENST00000456463.5:c.*791A>G | ENSP00000395568.1:n.*791A>G | |
| NM_001167962.1:c.1494A>G | NP_001161434.1:p.Lys498= | |
| NM_198999.2:c.1590A>G | NP_945350.1:p.Lys530= | |
| NM_206883.2:c.1590A>G | NP_996766.1:p.Lys530= | |
| NM_206884.2:c.1514+9678A>G | NP_996767.1:n.1514+9678A>G | |
| NM_206885.2:c.971+18602A>G | NP_996768.1:n.971+18602A>G | |
| NR_120441.1:n.1606A>G | ||
| NR_120442.1:n.1502A>G | ||
| NR_120443.1:n.1528A>G | ||
| XM_011516170.1:c.1590A>G | XP_011514472.1:p.Lys530= | |
| NM_001321787.1:c.1494A>G | NP_001308716.1:p.Lys498= | |
| NR_135801.1:n.1608A>G | ||
| NR_135802.1:n.1686A>G | ||
| XM_011516170.3:c.1590A>G | XP_011514472.1:p.Lys530= | |
| XR_001744725.2:n.1782A>G | ||
| XR_001744726.1:n.2572A>G | ||
| XR_001744727.2:n.1686A>G | ||
| NM_001321787.2:c.1494A>G | NP_001308716.1:p.Lys498= | |
| NM_198999.3:c.1590A>G MANE Select | NP_945350.1:p.Lys530= | |
| NM_206883.3:c.1590A>G | NP_996766.1:p.Lys530= | |
| NM_206884.3:c.1514+9678A>G | NP_996767.1:n.1514+9678A>G | |
| NM_206885.3:c.971+18602A>G | NP_996768.1:n.971+18602A>G | |
| NR_135802.2:n.1716A>G | ||
| NM_001167962.2:c.1494A>G | NP_001161434.1:p.Lys498= | |
| NR_135801.2:n.1638A>G |