Linked Data
ClinVar Variation Id:
314555
dbSNP Id:
rs375698520
gnomAD v2:
14-77751844-C-T
gnomAD v3:
14-77285501-C-T
gnomAD v4:
14-77285501-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77285501C>T , CM000676.2:g.77285501C>T | GRCh38 |
| NC_000014.8:g.77751844C>T , CM000676.1:g.77751844C>T | GRCh37 |
| NC_000014.7:g.76821597C>T | NCBI36 |
| NG_008897.1:g.40382G>A , LRG_844:g.40382G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.103G>A | ||
| ENST00000556394.2:c.1005G>A | ENSP00000451967.2:p.Ser335= | |
| ENST00000682247.1:c.1464G>A | ENSP00000507213.1:p.Ser488= | |
| ENST00000682382.1:c.1036G>A | ||
| ENST00000682395.1:n.1642G>A | ||
| ENST00000682459.1:n.1167G>A | ||
| ENST00000682467.1:c.1464G>A | ENSP00000508062.1:p.Ser488= | |
| ENST00000682560.1:c.132G>A | ENSP00000507033.1:p.Ser44= | |
| ENST00000682795.1:c.1464G>A | ENSP00000507574.1:p.Ser488= | |
| ENST00000682895.1:n.1180G>A | ||
| ENST00000682955.1:n.752G>A | ||
| ENST00000683188.1:c.1439G>A | ||
| ENST00000683380.1:n.1128G>A | ||
| ENST00000683828.1:c.1173G>A | ||
| ENST00000684259.1:n.1315G>A | ||
| ENST00000684444.1:c.215G>A | ||
| ENST00000684549.1:n.1015G>A | ||
| ENST00000261534.9:c.1464G>A MANE Select | ENSP00000261534.4:p.Ser488= | |
| ENST00000261534.8:c.1464G>A | ENSP00000261534.4:p.Ser488= | |
| ENST00000452340.7:n.1487G>A | ||
| ENST00000553880.5:n.335G>A | ||
| ENST00000554767.5:n.2250G>A | ||
| ENST00000554884.5:n.456G>A | ||
| ENST00000555134.1:n.103G>A | ||
| ENST00000557675.5:n.554G>A | ||
| NM_013382.5:c.1464G>A , LRG_844t1:c.1464G>A | NP_037514.2:p.Ser488= | |
| XM_011536675.1:c.1464G>A | XP_011534977.1:p.Ser488= | |
| XM_011536676.1:c.1131G>A | XP_011534978.1:p.Ser377= | |
| XM_011536677.1:c.1005G>A | XP_011534979.1:p.Ser335= | |
| XM_011536678.1:c.1464G>A | XP_011534980.1:p.Ser488= | |
| XM_011536679.1:c.558G>A | XP_011534981.1:p.Ser186= | |
| XR_943416.1:n.1667G>A | ||
| XM_011536675.2:c.1464G>A | XP_011534977.1:p.Ser488= | |
| XM_011536676.2:c.1131G>A | XP_011534978.1:p.Ser377= | |
| XM_011536677.3:c.1005G>A | XP_011534979.1:p.Ser335= | |
| XR_001750279.1:n.1664G>A | ||
| XR_001750282.1:n.2117G>A | ||
| XR_943416.3:n.1665G>A | ||
| NM_013382.6:c.1464G>A | NP_037514.2:p.Ser488= | |
| NM_013382.7:c.1464G>A MANE Select | NP_037514.2:p.Ser488= |