Linked Data
ClinVar Variation Id:
2586856
ClinVar RCV Id:
RCV003341904
dbSNP Id:
rs1366317335
gnomAD v2:
11-67254578-G-T
gnomAD v4:
11-67487107-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487107G>T , CM000673.2:g.67487107G>T | GRCh38 |
| NC_000011.9:g.67254578G>T , CM000673.1:g.67254578G>T | GRCh37 |
| NC_000011.8:g.67011154G>T | NCBI36 |
| NG_008969.1:g.9074G>T , LRG_460:g.9074G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.178G>T | ||
| ENST00000528641.7:c.201G>T | ENSP00000434982.3:p.Lys67Asn | |
| ENST00000529797.2:n.131G>T | ||
| ENST00000682324.1:c.201G>T | ENSP00000508017.1:p.Lys67Asn | |
| ENST00000682659.1:c.100-2931G>T | ENSP00000507351.1:n.100-2931G>T | |
| ENST00000682699.1:c.201G>T | ENSP00000507935.1:p.Lys67Asn | |
| ENST00000683237.1:c.201G>T | ENSP00000507343.1:p.Lys67Asn | |
| ENST00000683856.1:c.24G>T | ENSP00000507979.1:p.Lys8Asn | |
| ENST00000684006.1:c.201G>T | ENSP00000507269.1:p.Lys67Asn | |
| ENST00000684657.1:c.100-2160G>T | ENSP00000507961.1:n.100-2160G>T | |
| ENST00000279146.8:c.201G>T MANE Select | ENSP00000279146.3:p.Lys67Asn | |
| ENST00000279146.7:c.201G>T | ENSP00000279146.3:p.Lys67Asn | |
| ENST00000528641.6:c.201G>T | ENSP00000434982.2:p.Lys67Asn | |
| ENST00000529797.1:n.311G>T | ||
| NM_001302959.1:c.24G>T | NP_001289888.1:p.Lys8Asn | |
| NM_001302960.1:c.201G>T | NP_001289889.1:p.Lys67Asn | |
| NM_003977.3:c.201G>T | NP_003968.3:p.Lys67Asn | |
| XM_024448761.1:c.201G>T | XP_024304529.1:p.Lys67Asn | |
| NM_003977.4:c.201G>T MANE Select | NP_003968.3:p.Lys67Asn | |
| NM_001302960.2:c.201G>T | NP_001289889.1:p.Lys67Asn | |
| NM_001302959.2:c.24G>T | NP_001289888.1:p.Lys8Asn |