Linked Data
dbSNP Id:
rs1247853574
gnomAD v2:
11-63990607-G-C
gnomAD v3:
11-64223135-G-C
gnomAD v4:
11-64223135-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223135G>C , CM000673.2:g.64223135G>C | GRCh38 |
| NC_000011.9:g.63990607G>C , CM000673.1:g.63990607G>C | GRCh37 |
| NC_000011.8:g.63747183G>C | NCBI36 |
| NG_016360.1:g.21456G>C , LRG_180:g.21456G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1770G>C | ENSP00000279227.5:p.Lys590Asn | |
| ENST00000540554.2:n.3282G>C | ||
| ENST00000541252.2:c.1218G>C | ENSP00000438885.2:p.Lys406Asn | |
| ENST00000544997.6:c.1758G>C | ENSP00000445778.2:p.Lys586Asn | |
| ENST00000545896.2:c.322G>C | ENSP00000440209.2:p.Asp108His | |
| ENST00000546255.2:n.2062G>C | ||
| ENST00000698845.1:c.*953G>C | ENSP00000513981.1:n.*953G>C | |
| ENST00000698846.1:n.2004G>C | ||
| ENST00000698847.1:c.*1163G>C | ENSP00000513982.1:n.*1163G>C | |
| ENST00000698850.1:n.3779G>C | ||
| ENST00000698852.1:c.1758G>C | ENSP00000513984.1:p.Lys586Asn | |
| ENST00000698853.1:c.*987G>C | ENSP00000513985.1:n.*987G>C | |
| ENST00000698854.1:c.*1088G>C | ENSP00000513986.1:n.*1088G>C | |
| ENST00000698855.1:n.3410G>C | ||
| ENST00000698856.1:n.3104G>C | ||
| ENST00000698859.1:n.2268G>C | ||
| ENST00000698860.1:c.1770G>C | ENSP00000513988.1:p.Lys590Asn | |
| ENST00000698861.1:c.1758G>C | ENSP00000513989.1:p.Lys586Asn | |
| ENST00000698862.1:c.*1054G>C | ENSP00000513990.1:n.*1054G>C | |
| ENST00000698863.1:c.1758G>C | ENSP00000513991.1:p.Lys586Asn | |
| ENST00000698864.1:n.2319G>C | ||
| ENST00000698865.1:c.1779G>C | ENSP00000513992.1:p.Lys593Asn | |
| ENST00000698866.1:c.*1546G>C | ENSP00000513993.1:n.*1546G>C | |
| ENST00000698867.1:n.5733G>C | ||
| ENST00000698868.1:c.1623G>C | ENSP00000513994.1:p.Lys541Asn | |
| ENST00000698869.1:c.1524G>C | ENSP00000513995.1:p.Lys508Asn | |
| ENST00000698870.1:c.1758G>C | ENSP00000513996.1:p.Lys586Asn | |
| ENST00000698871.1:n.2281G>C | ||
| ENST00000698872.1:c.*547G>C | ENSP00000513997.1:n.*547G>C | |
| ENST00000698873.1:c.*953G>C | ENSP00000513998.1:n.*953G>C | |
| ENST00000698874.1:c.1218G>C | ENSP00000513999.1:p.Lys406Asn | |
| ENST00000698875.1:n.1618G>C | ||
| ENST00000698876.1:n.1806G>C | ||
| ENST00000698877.1:n.1326G>C | ||
| ENST00000698878.1:c.1752G>C | ENSP00000514000.1:p.Lys584Asn | |
| ENST00000698880.1:c.1626G>C | ||
| ENST00000345728.10:c.1758G>C MANE Select | ENSP00000339950.5:p.Lys586Asn | |
| ENST00000279227.9:c.1770G>C | ENSP00000279227.5:p.Lys590Asn | |
| ENST00000345728.9:c.1758G>C | ENSP00000339950.5:p.Lys586Asn | |
| ENST00000545896.1:c.321G>C | ENSP00000440209.1:p.Lys107Asn | |
| NM_031471.5:c.1758G>C | NP_113659.3:p.Lys586Asn | |
| NM_178443.2:c.1770G>C , LRG_180t1:c.1770G>C | NP_848537.1:p.Lys590Asn | |
| XM_011545294.1:c.1770G>C | XP_011543596.1:p.Lys590Asn | |
| XM_011545295.1:c.1230G>C | XP_011543597.1:p.Lys410Asn | |
| XM_011545296.1:c.1230G>C | XP_011543598.1:p.Lys410Asn | |
| XM_011545294.3:c.1770G>C | XP_011543596.1:p.Lys590Asn | |
| XM_011545295.2:c.1230G>C | XP_011543597.1:p.Lys410Asn | |
| XM_017018398.2:c.1758G>C | XP_016873887.1:p.Lys586Asn | |
| XM_017018399.1:c.1218G>C | XP_016873888.1:p.Lys406Asn | |
| NM_031471.6:c.1758G>C MANE Select | NP_113659.3:p.Lys586Asn | |
| NM_001382361.1:c.1758G>C | NP_001369290.1:p.Lys586Asn | |
| NM_001382362.1:c.1770G>C | NP_001369291.1:p.Lys590Asn | |
| NM_001382363.1:c.1218G>C | NP_001369292.1:p.Lys406Asn | |
| NM_001382364.1:c.1230G>C | NP_001369293.1:p.Lys410Asn | |
| NM_001382448.1:c.1758G>C | NP_001369377.1:p.Lys586Asn | |
| NM_178443.3:c.1770G>C | NP_848537.1:p.Lys590Asn |