Linked Data
dbSNP Id:
rs1016339
gnomAD v2:
2-56421972-C-T
gnomAD v3:
2-56194837-C-T
gnomAD v4:
2-56194837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.56194837C>T , CM000664.2:g.56194837C>T | GRCh38 |
| NC_000002.11:g.56421972C>T , CM000664.1:g.56421972C>T | GRCh37 |
| NC_000002.10:g.56275476C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407595.3:c.1240+1397C>T MANE Select | ENSP00000384040.2:n.1240+1397C>T | |
| ENST00000407595.2:c.1240+1397C>T | ENSP00000384040.2:n.1240+1397C>T | |
| NM_001080433.1:c.1240+1397C>T | NP_001073902.1:n.1240+1397C>T | |
| XM_005264125.1:c.1240+1397C>T | XP_005264182.1:n.1240+1397C>T | |
| NM_001348512.1:c.1240+1397C>T | NP_001335441.1:n.1240+1397C>T | |
| NM_001348513.1:c.1240+1397C>T | NP_001335442.1:n.1240+1397C>T | |
| NM_001348514.1:c.1240+1397C>T | NP_001335443.1:n.1240+1397C>T | |
| NM_001348515.1:c.1240+1397C>T | NP_001335444.1:n.1240+1397C>T | |
| NM_001348516.1:c.1240+1397C>T | NP_001335445.1:n.1240+1397C>T | |
| XM_024452642.1:c.1153+1397C>T | XP_024308410.1:n.1153+1397C>T | |
| NM_001080433.2:c.1240+1397C>T MANE Select | NP_001073902.1:n.1240+1397C>T |