Identifiers and link-outs to other resources
dbSNP Id:
rs1023252
ExAC:
1:11899033 G / T
gnomAD:
1:11899033 G / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11838976G>T , CM000663.2:g.11838976G>T | GRCh38 |
| NC_000001.10:g.11899033G>T , CM000663.1:g.11899033G>T | GRCh37 |
| NC_000001.9:g.11821620G>T | NCBI36 |
| NG_008766.1:g.37827G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001256959.1:c.2463+316G>T VV | NP_001243888.1:p.= | |
| NM_001286.3:c.2529+316G>T VV | NP_001277.1:p.= | |
| NR_046428.1:n.2680+316G>T | ||
| NM_001286.4:c.2529+316G>T VV | NP_001277.1:p.= | |
| ENST00000312413.10:c.2463+316G>T | ENSP00000308367.7:p.= | |
| ENST00000346436.10:c.2529+316G>T | ENSP00000234488.9:p.= | |
| ENST00000376496.4:c.2845G>T | ENSP00000365679.3:p.Asp949Tyr |