Linked Data
ClinVar Variation Id:
1048857
dbSNP Id:
rs200720726
ExAC:
2:121712878 C / A
gnomAD v2:
2-121712878-C-A
gnomAD v3:
2-120955302-C-A
gnomAD v4:
2-120955302-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120955302C>A , CM000664.2:g.120955302C>A | GRCh38 |
| NC_000002.11:g.121712878C>A , CM000664.1:g.121712878C>A | GRCh37 |
| NC_000002.10:g.121429348C>A | NCBI36 |
| NG_009030.1:g.163012C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.515C>A MANE Select | ENSP00000354586.5:p.Thr172Asn | |
| ENST00000452319.6:c.515C>A | ENSP00000390436.1:p.Thr172Asn | |
| ENST00000314490.15:c.-139-15091C>A | ENSP00000312694.12:n.-139-15091C>A | |
| ENST00000341310.10:c.149-15091C>A | ENSP00000344473.6:n.149-15091C>A | |
| ENST00000360874.10:c.231-13412C>A | ENSP00000441454.1:n.231-13412C>A | |
| ENST00000361492.8:c.515C>A | ENSP00000354586.4:p.Thr172Asn | |
| ENST00000433812.1:c.385C>A | ENSP00000402383.1:n.385C>A | |
| ENST00000435313.6:n.540C>A | ||
| ENST00000437950.5:c.149-15091C>A | ENSP00000415773.1:n.149-15091C>A | |
| ENST00000438299.5:c.149-15091C>A | ENSP00000400593.1:n.149-15091C>A | |
| ENST00000445186.5:c.149-15091C>A | ENSP00000397488.1:n.149-15091C>A | |
| ENST00000452319.5:c.515C>A | ENSP00000390436.1:p.Thr172Asn | |
| ENST00000452692.5:c.149-15091C>A | ENSP00000403715.1:n.149-15091C>A | |
| NM_005270.4:c.515C>A | NP_005261.2:p.Thr172Asn | |
| XM_006712422.1:c.515C>A | XP_006712485.1:p.Thr172Asn | |
| XM_011510969.1:c.497C>A | XP_011509271.1:p.Thr166Asn | |
| XM_011510970.1:c.374C>A | XP_011509272.1:p.Thr125Asn | |
| XM_011510971.1:c.320C>A | XP_011509273.1:p.Thr107Asn | |
| XM_011510972.1:c.320C>A | XP_011509274.1:p.Thr107Asn | |
| XM_011510973.1:c.140C>A | XP_011509275.1:p.Thr47Asn | |
| XM_011510974.1:c.140C>A | XP_011509276.1:p.Thr47Asn | |
| XM_006712422.3:c.515C>A | XP_006712485.1:p.Thr172Asn | |
| XM_011510969.2:c.767C>A | XP_011509271.2:p.Thr256Asn | |
| XM_011510970.2:c.374C>A | XP_011509272.1:p.Thr125Asn | |
| XM_011510971.2:c.320C>A | XP_011509273.1:p.Thr107Asn | |
| XM_011510972.2:c.416C>A | XP_011509274.2:p.Thr139Asn | |
| XM_011510973.2:c.140C>A | XP_011509275.1:p.Thr47Asn | |
| XM_011510974.2:c.140C>A | XP_011509276.1:p.Thr47Asn | |
| XM_017003818.1:c.767C>A | XP_016859307.1:p.Thr256Asn | |
| XM_024452794.1:c.515C>A | XP_024308562.1:p.Thr172Asn | |
| XM_024452795.1:c.515C>A | XP_024308563.1:p.Thr172Asn | |
| NM_001371271.1:c.515C>A | NP_001358200.1:p.Thr172Asn | |
| NM_001374353.1:c.515C>A MANE Select | NP_001361282.1:p.Thr172Asn | |
| NM_001374354.1:c.140C>A | NP_001361283.1:p.Thr47Asn | |
| NM_005270.5:c.515C>A | NP_005261.2:p.Thr172Asn |