Linked Data
ClinVar Variation Id:
374927
ClinVar RCV Id:
RCV000415550
dbSNP Id:
rs1057519309
PubMed:
PMID:27431290
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9178907T>C , CM000673.2:g.9178907T>C | GRCh38 |
| NC_000011.9:g.9200454T>C , CM000673.1:g.9200454T>C | GRCh37 |
| NC_000011.8:g.9157030T>C | NCBI36 |
| NG_053019.1:g.91429A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328194.8:c.1622A>G MANE Select | ENSP00000328524.3:p.Asp541Gly | |
| ENST00000530780.2:c.*1448A>G | ENSP00000433925.1:n.*1448A>G | |
| ENST00000530867.2:n.1411A>G | ||
| ENST00000679446.1:n.1543A>G | ||
| ENST00000679460.1:n.1411A>G | ||
| ENST00000679568.1:c.1622A>G | ENSP00000505860.1:p.Asp541Gly | |
| ENST00000679745.1:n.1411A>G | ||
| ENST00000679999.1:c.1622A>G | ENSP00000505198.1:p.Asp541Gly | |
| ENST00000680252.1:c.1411A>G | ||
| ENST00000680294.1:c.1622A>G | ENSP00000506113.1:p.Asp541Gly | |
| ENST00000680358.1:n.921A>G | ||
| ENST00000680470.1:c.1622A>G | ENSP00000505975.1:p.Asp541Gly | |
| ENST00000680554.1:c.1334A>G | ENSP00000505621.1:p.Asp445Gly | |
| ENST00000680576.1:n.1411A>G | ||
| ENST00000680599.1:n.1539A>G | ||
| ENST00000680742.1:c.1622A>G | ENSP00000505206.1:p.Asp541Gly | |
| ENST00000680885.1:n.1543A>G | ||
| ENST00000681158.1:c.1411A>G | ||
| ENST00000681173.1:n.1411A>G | ||
| ENST00000681203.1:c.1550A>G | ENSP00000506456.1:p.Asp517Gly | |
| ENST00000681425.1:n.1543A>G | ||
| ENST00000681915.1:n.1411A>G | ||
| ENST00000328194.7:c.1622A>G | ENSP00000328524.3:p.Asp541Gly | |
| ENST00000526707.5:c.1550A>G | ENSP00000436780.1:p.Asp517Gly | |
| ENST00000527896.1:c.11A>G | ENSP00000434397.1:p.Asp4Gly | |
| ENST00000530044.5:c.1622A>G | ENSP00000435866.1:p.Asp541Gly | |
| ENST00000530867.1:n.43A>G | ||
| NM_001243254.1:c.1622A>G | NP_001230183.1:p.Asp541Gly | |
| NM_015213.3:c.1622A>G | NP_056028.2:p.Asp541Gly | |
| XM_005252832.1:c.1622A>G | XP_005252889.1:p.Asp541Gly | |
| XM_011519952.1:c.1622A>G | XP_011518254.1:p.Asp541Gly | |
| XR_242782.2:n.1887A>G | ||
| XR_930851.1:n.1887A>G | ||
| XR_930852.1:n.1887A>G | ||
| XR_930853.1:n.1887A>G | ||
| NM_001348749.1:c.1550A>G | NP_001335678.1:p.Asp517Gly | |
| NM_001348750.1:c.1334A>G | NP_001335679.1:p.Asp445Gly | |
| NR_145966.2:n.1879A>G | ||
| NM_015213.4:c.1622A>G MANE Select | NP_056028.2:p.Asp541Gly | |
| NM_001243254.2:c.1622A>G | NP_001230183.1:p.Asp541Gly | |
| NM_001348749.2:c.1550A>G | NP_001335678.1:p.Asp517Gly | |
| NM_001348750.2:c.1334A>G | NP_001335679.1:p.Asp445Gly |