Linked Data
ClinVar Variation Id:
3208656
ClinVar RCV Id:
RCV004502552
dbSNP Id:
rs755025112
ExAC:
3:183585747 C / G
gnomAD v2:
3-183585747-C-G
gnomAD v3:
3-183867959-C-G
gnomAD v4:
3-183867959-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183867959C>G , CM000665.2:g.183867959C>G | GRCh38 |
| NC_000003.11:g.183585747C>G , CM000665.1:g.183585747C>G | GRCh37 |
| NC_000003.10:g.185068441C>G | NCBI36 |
| NG_046164.1:g.21947G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317096.9:c.227G>C MANE Select | ENSP00000325421.5:p.Arg76Thr | |
| ENST00000638817.1:c.227G>C | ENSP00000492596.1:p.Arg76Thr | |
| ENST00000639100.1:c.-467G>C | ENSP00000491186.1:n.-467G>C | |
| ENST00000639401.1:c.227G>C | ENSP00000491227.1:p.Arg76Thr | |
| ENST00000639900.1:c.227G>C | ENSP00000491109.1:p.Arg76Thr | |
| ENST00000311101.9:c.227G>C | ENSP00000310676.5:p.Arg76Thr | |
| ENST00000317096.8:c.227G>C | ENSP00000325421.4:p.Arg76Thr | |
| ENST00000421484.5:c.227G>C | ENSP00000404421.1:p.Arg76Thr | |
| ENST00000435888.5:c.227G>C | ENSP00000402137.1:p.Arg76Thr | |
| ENST00000449306.1:c.108G>C | ||
| ENST00000469056.1:n.149G>C | ||
| NM_001037639.1:c.227G>C | NP_001032728.1:p.Arg76Thr | |
| NM_018622.5:c.227G>C | NP_061092.3:p.Arg76Thr | |
| XM_005247582.3:c.227G>C | XP_005247639.1:p.Arg76Thr | |
| XM_005247584.3:c.227G>C | XP_005247641.1:p.Arg76Thr | |
| NM_001037639.2:c.227G>C | NP_001032728.1:p.Arg76Thr | |
| NM_001324436.1:c.227G>C | NP_001311365.1:p.Arg76Thr | |
| NM_001324437.1:c.227G>C | NP_001311366.1:p.Arg76Thr | |
| NM_001324438.1:c.227G>C | NP_001311367.1:p.Arg76Thr | |
| NM_018622.6:c.227G>C | NP_061092.3:p.Arg76Thr | |
| NR_136893.1:n.289G>C | ||
| XM_005247582.5:c.227G>C | XP_005247639.1:p.Arg76Thr | |
| XM_017006800.2:c.227G>C | XP_016862289.1:p.Arg76Thr | |
| XM_017006801.1:c.227G>C | XP_016862290.1:p.Arg76Thr | |
| XM_017006802.1:c.227G>C | XP_016862291.1:p.Arg76Thr | |
| XM_017006803.1:c.-403G>C | XP_016862292.1:n.-403G>C | |
| XM_024453628.1:c.-347G>C | XP_024309396.1:n.-347G>C | |
| XM_024453630.1:c.-467G>C | XP_024309398.1:n.-467G>C | |
| XM_024453631.1:c.-523G>C | XP_024309399.1:n.-523G>C | |
| XM_024453632.1:c.-523G>C | XP_024309400.1:n.-523G>C | |
| XM_024453633.1:c.-467G>C | XP_024309401.1:n.-467G>C | |
| NM_001037639.3:c.227G>C | NP_001032728.1:p.Arg76Thr | |
| NM_001324436.2:c.227G>C | NP_001311365.1:p.Arg76Thr | |
| NM_001324437.2:c.227G>C | NP_001311366.1:p.Arg76Thr | |
| NM_001324438.2:c.227G>C | NP_001311367.1:p.Arg76Thr | |
| NM_018622.7:c.227G>C MANE Select | NP_061092.3:p.Arg76Thr | |
| NR_136893.2:n.261G>C |