Linked Data
ClinVar Variation Id:
1691020
ClinVar RCV Id:
RCV002252612
dbSNP Id:
rs1158351339
gnomAD v4:
16-3728936-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728936C>G , CM000678.2:g.3728936C>G | GRCh38 |
| NC_000016.9:g.3778937C>G , CM000678.1:g.3778937C>G | GRCh37 |
| NC_000016.8:g.3718938C>G | NCBI36 |
| NG_009873.1:g.156185G>C | |
| NG_009873.2:g.156778G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6111G>C MANE Select | ENSP00000262367.5:p.Arg2037Ser | |
| ENST00000262367.9:c.6111G>C | ENSP00000262367.5:p.Arg2037Ser | |
| ENST00000382070.7:c.5997G>C | ENSP00000371502.3:p.Arg1999Ser | |
| NM_001079846.1:c.5997G>C | NP_001073315.1:p.Arg1999Ser | |
| NM_004380.2:c.6111G>C | NP_004371.2:p.Arg2037Ser | |
| XM_005255124.3:c.6066G>C | XP_005255181.1:p.Arg2022Ser | |
| XM_005255125.3:c.5694G>C | XP_005255182.1:p.Arg1898Ser | |
| XM_006720848.2:c.5850G>C | XP_006720911.1:p.Arg1950Ser | |
| XM_011522380.1:c.6057G>C | XP_011520682.1:p.Arg2019Ser | |
| XM_011522381.1:c.5358G>C | XP_011520683.1:p.Arg1786Ser | |
| XM_005255124.4:c.6066G>C | XP_005255181.1:p.Arg2022Ser | |
| XM_005255125.4:c.5694G>C | XP_005255182.1:p.Arg1898Ser | |
| XM_006720848.3:c.5850G>C | XP_006720911.1:p.Arg1950Ser | |
| XM_011522381.2:c.5358G>C | XP_011520683.1:p.Arg1786Ser | |
| XM_017022944.1:c.6105G>C | XP_016878433.1:p.Arg2035Ser | |
| NM_004380.3:c.6111G>C MANE Select | NP_004371.2:p.Arg2037Ser |