Linked Data
ClinVar Variation Id:
2709432
ClinVar RCV Id:
RCV003518144
dbSNP Id:
rs746547322
ExAC:
17:48274351 A / G
gnomAD v3:
17-50196990-A-G
gnomAD v4:
17-50196990-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50196990A>G , CM000679.2:g.50196990A>G | GRCh38 |
| NC_000017.10:g.48274351A>G , CM000679.1:g.48274351A>G | GRCh37 |
| NC_000017.9:g.45629350A>G | NCBI36 |
| NG_007400.1:g.9650T>C , LRG_1:g.9650T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.804+20T>C MANE Select | ENSP00000225964.6:n.804+20T>C | |
| ENST00000225964.9:c.804+20T>C | ENSP00000225964.5:n.804+20T>C | |
| ENST00000495677.1:n.531+20T>C | ||
| NM_000088.3:c.804+20T>C , LRG_1t1:c.804+20T>C | NP_000079.2:n.804+20T>C | |
| XM_005257058.3:c.804+20T>C | XP_005257115.2:n.804+20T>C | |
| XM_005257059.3:c.804+20T>C | XP_005257116.2:n.804+20T>C | |
| XM_011524341.1:c.804+20T>C | XP_011522643.1:n.804+20T>C | |
| XM_005257058.4:c.804+20T>C | XP_005257115.2:n.804+20T>C | |
| XM_005257059.4:c.804+20T>C | XP_005257116.2:n.804+20T>C | |
| NM_000088.4:c.804+20T>C MANE Select | NP_000079.2:n.804+20T>C |