Linked Data
dbSNP Id:
rs201627277
ExAC:
17:48273237 C / G
gnomAD v2:
17-48273237-C-G
gnomAD v3:
17-50195876-C-G
gnomAD v4:
17-50195876-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195876C>G , CM000679.2:g.50195876C>G | GRCh38 |
| NC_000017.10:g.48273237C>G , CM000679.1:g.48273237C>G | GRCh37 |
| NC_000017.9:g.45628236C>G | NCBI36 |
| NG_007400.1:g.10764G>C , LRG_1:g.10764G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1056+47G>C MANE Select | ENSP00000225964.6:n.1056+47G>C | |
| ENST00000225964.9:c.1056+47G>C | ENSP00000225964.5:n.1056+47G>C | |
| NM_000088.3:c.1056+47G>C , LRG_1t1:c.1056+47G>C | NP_000079.2:n.1056+47G>C | |
| XM_005257058.3:c.1056+47G>C | XP_005257115.2:n.1056+47G>C | |
| XM_005257059.3:c.957+438G>C | XP_005257116.2:n.957+438G>C | |
| XM_011524341.1:c.958-398G>C | XP_011522643.1:n.958-398G>C | |
| XM_005257058.4:c.1056+47G>C | XP_005257115.2:n.1056+47G>C | |
| XM_005257059.4:c.957+438G>C | XP_005257116.2:n.957+438G>C | |
| NM_000088.4:c.1056+47G>C MANE Select | NP_000079.2:n.1056+47G>C |