Linked Data
dbSNP Id:
rs374197870
ExAC:
4:100048479 C / T
gnomAD v2:
4-100048479-C-T
gnomAD v3:
4-99127328-C-T
gnomAD v4:
4-99127328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99127328C>T , CM000666.2:g.99127328C>T | GRCh38 |
| NC_000004.11:g.100048479C>T , CM000666.1:g.100048479C>T | GRCh37 |
| NC_000004.10:g.100267502C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265512.12:c.860G>A MANE Select | ENSP00000265512.7:p.Cys287Tyr | |
| ENST00000265512.11:c.860G>A | ENSP00000265512.7:p.Cys287Tyr | |
| ENST00000505590.5:c.917G>A | ENSP00000425416.1:p.Cys306Tyr | |
| ENST00000506705.5:c.*834G>A | ENSP00000426667.1:n.*834G>A | |
| ENST00000508393.5:c.917G>A | ENSP00000424630.1:p.Cys306Tyr | |
| ENST00000509471.5:c.334-596G>A | ENSP00000424583.1:n.334-596G>A | |
| ENST00000629236.2:c.860G>A | ENSP00000486450.1:p.Cys287Tyr | |
| NM_000670.3:c.860G>A | NP_000661.2:p.Cys287Tyr | |
| NM_000670.4:c.860G>A | NP_000661.2:p.Cys287Tyr | |
| NM_001306171.1:c.917G>A | NP_001293100.1:p.Cys306Tyr | |
| NM_001306172.1:c.917G>A | NP_001293101.1:p.Cys306Tyr | |
| NR_037884.1:n.429-6227C>T | ||
| XR_938685.1:n.1088G>A | ||
| XR_938686.1:n.1079G>A | ||
| XR_938687.1:n.952G>A | ||
| NM_000670.5:c.860G>A MANE Select | NP_000661.2:p.Cys287Tyr | |
| NM_001306171.2:c.917G>A | NP_001293100.1:p.Cys306Tyr | |
| NM_001306172.2:c.917G>A | NP_001293101.1:p.Cys306Tyr |