Linked Data
ClinVar Variation Id:
44961
ClinVar RCV Id:
RCV000407224
RCV000345016
RCV000038097
RCV000246551
RCV001711124
RCV000314429
RCV000469955
RCV000776009
dbSNP Id:
rs11558731
ExAC:
6:7585670 C / A
gnomAD v2:
6-7585670-C-A
gnomAD v3:
6-7585437-C-A
gnomAD v4:
6-7585437-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585437C>A , CM000668.2:g.7585437C>A | GRCh38 |
| NC_000006.11:g.7585670C>A , CM000668.1:g.7585670C>A | GRCh37 |
| NC_000006.10:g.7530669C>A | NCBI36 |
| NG_008803.1:g.48801C>A , LRG_423:g.48801C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6846C>A | ENSP00000518230.1:p.Arg2282= | |
| ENST00000379802.8:c.8175C>A MANE Select | ENSP00000369129.3:p.Arg2725= | |
| ENST00000379802.7:c.8175C>A | ENSP00000369129.3:p.Arg2725= | |
| ENST00000418664.2:c.6378C>A | ENSP00000396591.2:p.Arg2126= | |
| NM_001008844.1:c.6378C>A | NP_001008844.1:p.Arg2126= | |
| NM_004415.2:c.8175C>A , LRG_423t1:c.8175C>A | NP_004406.2:p.Arg2725= | |
| XM_011514323.1:c.6846C>A | XP_011512625.1:p.Arg2282= | |
| NM_001008844.2:c.6378C>A | NP_001008844.1:p.Arg2126= | |
| NM_001319034.1:c.6846C>A | NP_001305963.1:p.Arg2282= | |
| NM_004415.3:c.8175C>A | NP_004406.2:p.Arg2725= | |
| NM_004415.4:c.8175C>A MANE Select | NP_004406.2:p.Arg2725= | |
| NM_001008844.3:c.6378C>A | NP_001008844.1:p.Arg2126= | |
| NM_001319034.2:c.6846C>A | NP_001305963.1:p.Arg2282= |