Linked Data
ClinVar Variation Id:
324548
ClinVar RCV Id:
RCV000270842
RCV000328128
RCV000381655
RCV000385049
RCV000611460
RCV000873888
RCV001718679
dbSNP Id:
rs372791798
ExAC:
17:62045408 A / G
gnomAD v2:
17-62045408-A-G
gnomAD v3:
17-63968048-A-G
gnomAD v4:
17-63968048-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63968048A>G , CM000679.2:g.63968048A>G | GRCh38 |
| NC_000017.10:g.62045408A>G , CM000679.1:g.62045408A>G | GRCh37 |
| NC_000017.9:g.59399140A>G | NCBI36 |
| NG_011699.1:g.9871T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.1011T>C MANE Select | ENSP00000396320.1:p.Asp337= | |
| ENST00000578147.5:c.1011T>C | ENSP00000463963.1:p.Asp337= | |
| NM_000334.4:c.1011T>C MANE Select | NP_000325.4:p.Asp337= | |
| XM_005257566.3:c.1011T>C | XP_005257623.1:p.Asp337= |