Linked Data
dbSNP Id:
rs34746358
ExAC:
16:81301600 A / C
gnomAD v2:
16-81301600-A-C
gnomAD v3:
16-81267995-A-C
gnomAD v4:
16-81267995-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81267995A>C , CM000678.2:g.81267995A>C | GRCh38 |
| NC_000016.9:g.81301600A>C , CM000678.1:g.81301600A>C | GRCh37 |
| NC_000016.8:g.79859101A>C | NCBI36 |
| NG_012171.1:g.34305A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258168.7:c.707A>C MANE Select | ENSP00000258168.2:p.Tyr236Ser | |
| ENST00000258168.6:c.707A>C | ENSP00000258168.2:p.Tyr236Ser | |
| ENST00000563804.5:c.*331A>C | ENSP00000457910.1:n.*331A>C | |
| NM_017429.2:c.707A>C | NP_059125.2:p.Tyr236Ser | |
| XM_011523109.1:c.707A>C | XP_011521411.1:p.Tyr236Ser | |
| XM_011523110.1:c.158A>C | XP_011521412.1:p.Tyr53Ser | |
| XM_011523109.2:c.707A>C | XP_011521411.1:p.Tyr236Ser | |
| XM_017023286.2:c.707A>C | XP_016878775.1:p.Tyr236Ser | |
| XM_017023287.2:c.707A>C | XP_016878776.1:p.Tyr236Ser | |
| XM_017023288.2:c.707A>C | XP_016878777.1:p.Tyr236Ser | |
| XM_017023289.1:c.-24-47A>C | XP_016878778.1:n.-24-47A>C | |
| XR_002957813.1:n.1081-47A>C | ||
| NM_017429.3:c.707A>C MANE Select | NP_059125.2:p.Tyr236Ser |