Linked Data
ClinVar Variation Id:
290404
ClinVar RCV Id:
RCV002059287
dbSNP Id:
rs201824364
gnomAD v3:
5-162149295-T-C
gnomAD v4:
5-162149295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162149295T>C , CM000667.2:g.162149295T>C | GRCh38 |
| NC_000005.9:g.161576301T>C , CM000667.1:g.161576301T>C | GRCh37 |
| NC_000005.8:g.161508879T>C | NCBI36 |
| NG_009290.1:g.86654T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356592.8:c.1111T>C | ||
| ENST00000361925.9:c.1230T>C | ENSP00000354651.5:p.Asp410= | |
| ENST00000523372.2:c.1193T>C | ||
| ENST00000638253.1:n.364T>C | ||
| ENST00000638552.1:c.825T>C | ENSP00000491763.1:p.Asp275= | |
| ENST00000638660.1:c.825T>C | ENSP00000492869.1:p.Asp275= | |
| ENST00000638772.1:c.1110T>C | ENSP00000491557.1:p.Asp370= | |
| ENST00000638877.1:c.987T>C | ||
| ENST00000639046.1:c.501T>C | ENSP00000492659.1:p.Asp167= | |
| ENST00000639111.2:c.1110T>C | ENSP00000492125.2:p.Asp370= | |
| ENST00000639213.2:c.1110T>C MANE Select | ENSP00000491909.2:p.Asp370= | |
| ENST00000639278.1:c.1038T>C | ENSP00000491958.1:p.Asp346= | |
| ENST00000639384.1:c.1110T>C | ENSP00000491240.1:p.Asp370= | |
| ENST00000639424.1:c.*310T>C | ENSP00000491245.1:n.*310T>C | |
| ENST00000639683.1:c.1044T>C | ENSP00000492581.1:p.Asp348= | |
| ENST00000639975.1:c.1044T>C | ENSP00000492096.1:p.Asp348= | |
| ENST00000640500.1:n.408T>C | ||
| ENST00000640574.1:c.825T>C | ENSP00000491582.1:p.Asp275= | |
| ENST00000640739.1:n.3641T>C | ||
| ENST00000640910.1:c.548T>C | ||
| ENST00000640985.1:c.1023T>C | ENSP00000492293.1:p.Asp341= | |
| ENST00000641017.1:c.1110T>C | ENSP00000493461.1:p.Asp370= | |
| ENST00000356592.7:c.1110T>C | ENSP00000349000.3:p.Asp370= | |
| ENST00000361925.8:c.1110T>C | ENSP00000354651.4:p.Asp370= | |
| ENST00000414552.6:c.1230T>C | ENSP00000410732.2:p.Asp410= | |
| ENST00000522990.5:c.*712T>C | ENSP00000430732.1:n.*712T>C | |
| ENST00000523372.1:c.1231T>C | ENSP00000430124.1:n.1231T>C | |
| NM_000816.3:c.1110T>C | NP_000807.2:p.Asp370= | |
| NM_198903.2:c.1230T>C | NP_944493.2:p.Asp410= | |
| NM_198904.2:c.1110T>C | NP_944494.1:p.Asp370= | |
| NM_001375339.1:c.1101T>C | NP_001362268.1:p.Asp367= | |
| NM_001375340.1:c.923-2435T>C | NP_001362269.1:n.923-2435T>C | |
| NM_001375341.1:c.1107T>C | NP_001362270.1:p.Asp369= | |
| NM_001375342.1:c.1107T>C | NP_001362271.1:p.Asp369= | |
| NM_001375343.1:c.1230T>C | NP_001362272.1:p.Asp410= | |
| NM_001375344.1:c.1149T>C | NP_001362273.1:p.Asp383= | |
| NM_001375345.1:c.1044T>C | NP_001362274.1:p.Asp348= | |
| NM_001375346.1:c.1044T>C | NP_001362275.1:p.Asp348= | |
| NM_001375347.1:c.1023T>C | NP_001362276.1:p.Asp341= | |
| NM_001375348.1:c.690T>C | NP_001362277.1:p.Asp230= | |
| NM_001375349.1:c.825T>C | NP_001362278.1:p.Asp275= | |
| NM_001375350.1:c.690T>C | NP_001362279.1:p.Asp230= | |
| NM_198904.3:c.1110T>C | NP_944494.1:p.Asp370= | |
| NM_198904.4:c.1110T>C MANE Select | NP_944494.1:p.Asp370= |