Linked Data
ClinVar Variation Id:
162949
dbSNP Id:
rs376881824
ExAC:
10:73569740 C / T
gnomAD v2:
10-73569740-C-T
gnomAD v3:
10-71809983-C-T
gnomAD v4:
10-71809983-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809983C>T , CM000672.2:g.71809983C>T | GRCh38 |
| NC_000010.10:g.73569740C>T , CM000672.1:g.73569740C>T | GRCh37 |
| NC_000010.9:g.73239746C>T | NCBI36 |
| NG_008835.1:g.418037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8886C>T MANE Select | ENSP00000224721.9:p.Asn2962= | |
| ENST00000642965.1:c.2819C>T | ENSP00000495222.1:n.2819C>T | |
| ENST00000647092.1:c.2483C>T | ENSP00000495176.1:n.2483C>T | |
| ENST00000224721.10:c.8901C>T | ENSP00000224721.8:p.Asn2967= | |
| ENST00000398788.4:c.2166C>T | ENSP00000381768.3:p.Asn722= | |
| ENST00000475158.1:n.2422C>T | ||
| ENST00000619887.4:c.2166C>T | ENSP00000478374.1:p.Asn722= | |
| ENST00000622827.4:c.8886C>T | ENSP00000483211.1:p.Asn2962= | |
| NM_001171933.1:c.2166C>T | NP_001165404.1:p.Asn722= | |
| NM_001171934.1:c.2166C>T | NP_001165405.1:p.Asn722= | |
| NM_022124.5:c.8886C>T | NP_071407.4:p.Asn2962= | |
| XM_006717940.2:c.9081C>T | XP_006718003.1:p.Asn3027= | |
| XM_006717942.2:c.9015C>T | XP_006718005.1:p.Asn3005= | |
| XM_011540039.1:c.9078C>T | XP_011538341.1:p.Asn3026= | |
| XM_011540040.1:c.9075C>T | XP_011538342.1:p.Asn3025= | |
| XM_011540041.1:c.9021C>T | XP_011538343.1:p.Asn3007= | |
| XM_011540042.1:c.8991C>T | XP_011538344.1:p.Asn2997= | |
| XM_011540043.1:c.9081C>T | XP_011538345.1:p.Asn3027= | |
| XM_011540044.1:c.8946C>T | XP_011538346.1:p.Asn2982= | |
| XM_011540045.1:c.9081C>T | XP_011538347.1:p.Asn3027= | |
| XM_011540046.1:c.8541C>T | XP_011538348.1:p.Asn2847= | |
| XM_011540047.1:c.7899C>T | XP_011538349.1:p.Asn2633= | |
| XM_011540052.1:c.5409C>T | XP_011538354.1:p.Asn1803= | |
| NM_022124.6:c.8886C>T MANE Select | NP_071407.4:p.Asn2962= |