Linked Data
ClinVar Variation Id:
285170
dbSNP Id:
rs148080813
ExAC:
11:66332390 T / C
gnomAD v2:
11-66332390-T-C
gnomAD v3:
11-66564919-T-C
gnomAD v4:
11-66564919-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66564919T>C , CM000673.2:g.66564919T>C | GRCh38 |
| NC_000011.9:g.66332390T>C , CM000673.1:g.66332390T>C | GRCh37 |
| NC_000011.8:g.66088966T>C | NCBI36 |
| NG_013304.2:g.23000T>C | |
| NG_032973.1:g.8658A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310325.10:c.1133A>G MANE Select | ENSP00000310832.5:p.Asn378Ser | |
| ENST00000524994.6:c.1130A>G | ENSP00000433082.2:p.Asn377Ser | |
| ENST00000525733.6:c.*327A>G | ENSP00000434936.2:n.*327A>G | |
| ENST00000526010.2:c.857A>G | ENSP00000435822.2:p.Asn286Ser | |
| ENST00000527141.6:n.1032A>G | ||
| ENST00000530565.6:n.1499A>G | ||
| ENST00000533168.2:n.1221A>G | ||
| ENST00000676860.1:n.1084A>G | ||
| ENST00000676924.1:c.*153A>G | ENSP00000503579.1:n.*153A>G | |
| ENST00000677005.1:c.1133A>G | ENSP00000503238.1:p.Asn378Ser | |
| ENST00000677020.1:n.673A>G | ||
| ENST00000677186.1:n.1253A>G | ||
| ENST00000677298.1:n.1539A>G | ||
| ENST00000677365.1:n.1271A>G | ||
| ENST00000677526.1:c.*97A>G | ENSP00000504693.1:n.*97A>G | |
| ENST00000677587.1:c.1175A>G | ENSP00000503791.1:p.Asn392Ser | |
| ENST00000677678.1:n.542A>G | ||
| ENST00000677779.1:n.978A>G | ||
| ENST00000677896.1:c.1124A>G | ENSP00000504605.1:p.Asn375Ser | |
| ENST00000677920.1:c.*385A>G | ENSP00000503614.1:n.*385A>G | |
| ENST00000678154.1:c.*795A>G | ENSP00000502935.1:n.*795A>G | |
| ENST00000678294.1:n.1249A>G | ||
| ENST00000678305.1:c.1061A>G | ENSP00000504383.1:p.Asn354Ser | |
| ENST00000678383.1:n.1885A>G | ||
| ENST00000678413.1:c.*327A>G | ENSP00000503232.1:n.*327A>G | |
| ENST00000678471.1:c.1130A>G | ENSP00000502949.1:p.Asn377Ser | |
| ENST00000678614.1:n.1056A>G | ||
| ENST00000678710.1:c.1133A>G | ENSP00000504254.1:p.Asn378Ser | |
| ENST00000678872.1:c.1133A>G | ENSP00000503425.1:p.Asn378Ser | |
| ENST00000678946.1:n.1065A>G | ||
| ENST00000678953.1:c.*869A>G | ENSP00000504169.1:n.*869A>G | |
| ENST00000679011.1:c.*97A>G | ENSP00000503980.1:n.*97A>G | |
| ENST00000679024.1:c.1133A>G | ENSP00000503506.1:p.Asn378Ser | |
| ENST00000679160.1:c.1058A>G | ENSP00000503972.1:p.Asn353Ser | |
| ENST00000679225.1:n.1073A>G | ||
| ENST00000679314.1:c.*227A>G | ENSP00000503465.1:n.*227A>G | |
| ENST00000679347.1:c.1133A>G | ENSP00000503676.1:p.Asn378Ser | |
| ENST00000310325.9:c.1133A>G | ENSP00000310832.5:p.Asn378Ser | |
| ENST00000524994.5:c.675A>G | ||
| ENST00000525733.5:c.400A>G | ||
| ENST00000527141.5:n.654A>G | ||
| ENST00000529199.1:n.457A>G | ||
| ENST00000530565.5:n.458A>G | ||
| NM_003793.3:c.1133A>G | NP_003784.2:p.Asn378Ser | |
| XM_011545328.1:c.953A>G | XP_011543630.1:p.Asn318Ser | |
| XM_011545328.2:c.953A>G | XP_011543630.1:p.Asn318Ser | |
| NM_003793.4:c.1133A>G MANE Select | NP_003784.2:p.Asn378Ser |