Linked Data
ClinVar Variation Id:
222026
ClinVar RCV Id:
RCV000207476
dbSNP Id:
rs767222404
gnomAD v4:
19-2993574-C-A
PubMed:
PMID:26537248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2993574C>A , CM000681.2:g.2993574C>A | GRCh38 |
| NC_000019.9:g.2993572C>A , CM000681.1:g.2993572C>A | GRCh37 |
| NC_000019.8:g.2944572C>A | NCBI36 |
| NG_051563.1:g.21160C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246112.9:c.1529C>A MANE Select | ENSP00000246112.3:p.Ser510Tyr | |
| ENST00000246112.8:c.1529C>A | ENSP00000246112.3:p.Ser510Tyr | |
| ENST00000452088.5:c.1160C>A | ENSP00000406893.1:p.Ser387Tyr | |
| ENST00000497878.5:n.1222C>A | ||
| ENST00000617937.4:c.1158C>A | ENSP00000483606.2:p.Leu386= | |
| NM_001143986.1:c.1529C>A | NP_001137458.1:p.Ser510Tyr | |
| NM_024760.2:c.1160C>A | NP_079036.1:p.Ser387Tyr | |
| XM_005259645.2:c.1529C>A | XP_005259702.1:p.Ser510Tyr | |
| XM_011528300.1:c.1529C>A | XP_011526602.1:p.Ser510Tyr | |
| XM_011528301.1:c.1160C>A | XP_011526603.1:p.Ser387Tyr | |
| XM_011528302.1:c.1160C>A | XP_011526604.1:p.Ser387Tyr | |
| XM_011528303.1:c.1160C>A | XP_011526605.1:p.Ser387Tyr | |
| XM_011528304.1:c.1160C>A | XP_011526606.1:p.Ser387Tyr | |
| XM_011528305.1:c.1010C>A | XP_011526607.1:p.Ser337Tyr | |
| XM_011528306.1:c.1010C>A | XP_011526608.1:p.Ser337Tyr | |
| XM_011528307.1:c.1010C>A | XP_011526609.1:p.Ser337Tyr | |
| XM_011528300.2:c.1529C>A | XP_011526602.1:p.Ser510Tyr | |
| XM_011528301.2:c.1160C>A | XP_011526603.1:p.Ser387Tyr | |
| XM_024451722.1:c.1160C>A | XP_024307490.1:p.Ser387Tyr | |
| XM_024451723.1:c.1160C>A | XP_024307491.1:p.Ser387Tyr | |
| XM_024451724.1:c.1010C>A | XP_024307492.1:p.Ser337Tyr | |
| NM_001143986.2:c.1529C>A MANE Select | NP_001137458.1:p.Ser510Tyr | |
| NM_024760.3:c.1160C>A | NP_079036.1:p.Ser387Tyr |