Linked Data
ClinVar Variation Id:
102910
dbSNP Id:
rs199475615
ExAC:
12:103240682 C / G
gnomAD v4:
12-102846904-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846904C>G , CM000674.2:g.102846904C>G | GRCh38 |
| NC_000012.11:g.103240682C>G , CM000674.1:g.103240682C>G | GRCh37 |
| NC_000012.10:g.101764812C>G | NCBI36 |
| NG_008690.1:g.75699G>C | |
| NG_008690.2:g.116507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.960G>C MANE Select | ENSP00000448059.1:p.Lys320Asn | |
| ENST00000307000.7:c.945G>C | ENSP00000303500.2:p.Lys315Asn | |
| ENST00000549247.6:n.719G>C | ||
| ENST00000551114.2:n.622G>C | ||
| ENST00000553106.5:c.960G>C | ENSP00000448059.1:p.Lys320Asn | |
| ENST00000635477.1:c.74-2473G>C | ||
| ENST00000635528.1:n.475G>C | ||
| NM_000277.1:c.960G>C | NP_000268.1:p.Lys320Asn | |
| XM_011538422.1:c.913-2473G>C | XP_011536724.1:n.913-2473G>C | |
| NM_000277.2:c.960G>C | NP_000268.1:p.Lys320Asn | |
| NM_001354304.1:c.960G>C | NP_001341233.1:p.Lys320Asn | |
| NM_000277.3:c.960G>C MANE Select | NP_000268.1:p.Lys320Asn | |
| NM_001354304.2:c.960G>C | NP_001341233.1:p.Lys320Asn |