Linked Data
ClinVar Variation Id:
2897789
ClinVar RCV Id:
RCV003632603
dbSNP Id:
rs754555549
ExAC:
17:48263148 A / G
gnomAD v2:
17-48263148-A-G
gnomAD v4:
17-50185787-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185787A>G , CM000679.2:g.50185787A>G | GRCh38 |
| NC_000017.10:g.48263148A>G , CM000679.1:g.48263148A>G | GRCh37 |
| NC_000017.9:g.45618147A>G | NCBI36 |
| NG_007400.1:g.20853T>C , LRG_1:g.20853T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4239T>C MANE Select | ENSP00000225964.6:p.Asp1413= | |
| ENST00000225964.9:c.4239T>C | ENSP00000225964.5:p.Asp1413= | |
| NM_000088.3:c.4239T>C , LRG_1t1:c.4239T>C | NP_000079.2:p.Asp1413= | |
| XM_005257058.3:c.3969T>C | XP_005257115.2:p.Asp1323= | |
| XM_005257059.3:c.3321T>C | XP_005257116.2:p.Asp1107= | |
| XM_011524341.1:c.4041T>C | XP_011522643.1:p.Asp1347= | |
| XM_005257058.4:c.3969T>C | XP_005257115.2:p.Asp1323= | |
| XM_005257059.4:c.3321T>C | XP_005257116.2:p.Asp1107= | |
| NM_000088.4:c.4239T>C MANE Select | NP_000079.2:p.Asp1413= |