Linked Data
ClinVar Variation Id:
446444
ClinVar RCV Id:
RCV000515672
dbSNP Id:
rs1554871816
PubMed:
PMID:25963016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71777711A>C , CM000672.2:g.71777711A>C | GRCh38 |
| NC_000010.10:g.73537468A>C , CM000672.1:g.73537468A>C | GRCh37 |
| NC_000010.9:g.73207474A>C | NCBI36 |
| NG_008835.1:g.385765A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4877A>C MANE Select | ENSP00000224721.9:p.Asp1626Ala | |
| ENST00000224721.10:c.4892A>C | ENSP00000224721.8:p.Asp1631Ala | |
| ENST00000622827.4:c.4877A>C | ENSP00000483211.1:p.Asp1626Ala | |
| NM_022124.5:c.4877A>C | NP_071407.4:p.Asp1626Ala | |
| XM_006717940.2:c.5072A>C | XP_006718003.1:p.Asp1691Ala | |
| XM_006717942.2:c.5006A>C | XP_006718005.1:p.Asp1669Ala | |
| XM_011540039.1:c.5069A>C | XP_011538341.1:p.Asp1690Ala | |
| XM_011540040.1:c.5066A>C | XP_011538342.1:p.Asp1689Ala | |
| XM_011540041.1:c.5012A>C | XP_011538343.1:p.Asp1671Ala | |
| XM_011540042.1:c.5072A>C | XP_011538344.1:p.Asp1691Ala | |
| XM_011540043.1:c.5072A>C | XP_011538345.1:p.Asp1691Ala | |
| XM_011540044.1:c.4937A>C | XP_011538346.1:p.Asp1646Ala | |
| XM_011540045.1:c.5072A>C | XP_011538347.1:p.Asp1691Ala | |
| XM_011540046.1:c.4532A>C | XP_011538348.1:p.Asp1511Ala | |
| XM_011540047.1:c.3890A>C | XP_011538349.1:p.Asp1297Ala | |
| XM_011540048.1:c.5072A>C | XP_011538350.1:p.Asp1691Ala | |
| XM_011540049.1:c.5072A>C | XP_011538351.1:p.Asp1691Ala | |
| XM_011540050.1:c.5072A>C | XP_011538352.1:p.Asp1691Ala | |
| XM_011540051.1:c.5072A>C | XP_011538353.1:p.Asp1691Ala | |
| XM_011540052.1:c.1400A>C | XP_011538354.1:p.Asp467Ala | |
| XM_011540053.1:c.5072A>C | XP_011538355.1:p.Asp1691Ala | |
| XR_945796.1:n.5315A>C | ||
| NM_022124.6:c.4877A>C MANE Select | NP_071407.4:p.Asp1626Ala |