Linked Data
ClinVar Variation Id:
472383
dbSNP Id:
rs375645919
gnomAD v2:
5-225557-G-C
gnomAD v4:
5-225442-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.225442G>C , CM000667.2:g.225442G>C | GRCh38 |
| NC_000005.9:g.225557G>C , CM000667.1:g.225557G>C | GRCh37 |
| NC_000005.8:g.278557G>C | NCBI36 |
| NG_012339.1:g.12202G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.336G>C MANE Select | ENSP00000264932.6:p.Gly112= | |
| ENST00000651543.1:c.336G>C | ENSP00000499215.1:p.Gly112= | |
| ENST00000264932.10:c.336G>C | ENSP00000264932.6:p.Gly112= | |
| ENST00000504309.5:c.336G>C | ENSP00000426514.1:p.Gly112= | |
| ENST00000504824.5:n.321G>C | ||
| ENST00000505555.5:n.376G>C | ||
| ENST00000509632.5:c.*164G>C | ENSP00000425077.1:n.*164G>C | |
| ENST00000510361.5:c.313-441G>C | ENSP00000427703.1:n.313-441G>C | |
| ENST00000617470.4:c.336G>C | ENSP00000484230.1:p.Gly112= | |
| NM_001294332.1:c.313-441G>C | NP_001281261.1:n.313-441G>C | |
| NM_004168.3:c.336G>C | NP_004159.2:p.Gly112= | |
| XM_005248331.2:c.336G>C | XP_005248388.1:p.Gly112= | |
| XM_011514072.1:c.336G>C | XP_011512374.1:p.Gly112= | |
| XM_011514073.1:c.336G>C | XP_011512375.1:p.Gly112= | |
| XR_925638.1:n.469G>C | ||
| NM_001330758.1:c.336G>C | NP_001317687.1:p.Gly112= | |
| XM_011514072.2:c.336G>C | XP_011512374.1:p.Gly112= | |
| XM_011514073.2:c.336G>C | XP_011512375.1:p.Gly112= | |
| XM_017009685.2:c.336G>C | XP_016865174.1:p.Gly112= | |
| XM_024446143.1:c.313-441G>C | XP_024301911.1:n.313-441G>C | |
| XR_002956167.1:n.383G>C | ||
| NM_004168.4:c.336G>C MANE Select | NP_004159.2:p.Gly112= | |
| NM_001294332.2:c.313-441G>C | NP_001281261.1:n.313-441G>C | |
| NM_001330758.2:c.336G>C | NP_001317687.1:p.Gly112= |