Linked Data
ClinVar Variation Id:
2164889
ClinVar RCV Id:
RCV003088265
dbSNP Id:
rs2151337114
gnomAD v4:
16-3739648-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3739648C>T , CM000678.2:g.3739648C>T | GRCh38 |
| NC_000016.9:g.3789649C>T , CM000678.1:g.3789649C>T | GRCh37 |
| NC_000016.8:g.3729650C>T | NCBI36 |
| NG_009873.1:g.145473G>A | |
| NG_009873.2:g.146066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4210G>A MANE Select | ENSP00000262367.5:p.Gly1404Ser | |
| ENST00000262367.9:c.4210G>A | ENSP00000262367.5:p.Gly1404Ser | |
| ENST00000382070.7:c.4096G>A | ENSP00000371502.3:p.Gly1366Ser | |
| ENST00000570939.2:c.2845G>A | ENSP00000461002.2:p.Gly949Ser | |
| ENST00000573517.6:c.516G>A | ||
| ENST00000574740.1:n.215+751G>A | ||
| ENST00000576720.1:n.3147G>A | ||
| NM_001079846.1:c.4096G>A | NP_001073315.1:p.Gly1366Ser | |
| NM_004380.2:c.4210G>A | NP_004371.2:p.Gly1404Ser | |
| XM_005255124.3:c.4165G>A | XP_005255181.1:p.Gly1389Ser | |
| XM_005255125.3:c.3793G>A | XP_005255182.1:p.Gly1265Ser | |
| XM_006720848.2:c.4133+751G>A | XP_006720911.1:n.4133+751G>A | |
| XM_011522380.1:c.4156G>A | XP_011520682.1:p.Gly1386Ser | |
| XM_011522381.1:c.3457G>A | XP_011520683.1:p.Gly1153Ser | |
| XM_005255124.4:c.4165G>A | XP_005255181.1:p.Gly1389Ser | |
| XM_005255125.4:c.3793G>A | XP_005255182.1:p.Gly1265Ser | |
| XM_006720848.3:c.4133+751G>A | XP_006720911.1:n.4133+751G>A | |
| XM_011522381.2:c.3457G>A | XP_011520683.1:p.Gly1153Ser | |
| XM_017022944.1:c.4204G>A | XP_016878433.1:p.Gly1402Ser | |
| NM_004380.3:c.4210G>A MANE Select | NP_004371.2:p.Gly1404Ser |