Linked Data
ClinVar Variation Id:
3003937
ClinVar RCV Id:
RCV003863512
dbSNP Id:
rs774807546
ExAC:
2:61144145 T / C
gnomAD v2:
2-61144145-T-C
gnomAD v3:
2-60917010-T-C
gnomAD v4:
2-60917010-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60917010T>C , CM000664.2:g.60917010T>C | GRCh38 |
| NC_000002.11:g.61144145T>C , CM000664.1:g.61144145T>C | GRCh37 |
| NC_000002.10:g.60997649T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.528T>C | ENSP00000514191.1:p.Tyr176= | |
| ENST00000699192.1:c.528T>C | ENSP00000514192.1:p.Tyr176= | |
| ENST00000699193.1:c.*127T>C | ENSP00000514193.1:n.*127T>C | |
| ENST00000699194.1:n.479T>C | ||
| ENST00000394479.4:c.528T>C MANE Select | ENSP00000377989.4:p.Tyr176= | |
| ENST00000295025.12:c.528T>C | ENSP00000295025.7:p.Tyr176= | |
| ENST00000394479.3:c.528T>C | ENSP00000377989.3:p.Tyr176= | |
| NM_001291746.1:c.528T>C | NP_001278675.1:p.Tyr176= | |
| NM_002908.3:c.528T>C | NP_002899.1:p.Tyr176= | |
| XM_011533010.1:c.234T>C | XP_011531312.1:p.Tyr78= | |
| XM_011533010.3:c.234T>C | XP_011531312.1:p.Tyr78= | |
| XM_017004627.2:c.528T>C | XP_016860116.1:p.Tyr176= | |
| NM_001291746.2:c.528T>C MANE Select | NP_001278675.1:p.Tyr176= | |
| NM_002908.4:c.528T>C | NP_002899.1:p.Tyr176= |