Linked Data
dbSNP Id:
rs144753674
ExAC:
6:84566990 A / T
gnomAD v2:
6-84566990-A-T
gnomAD v4:
6-83857271-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83857271A>T , CM000668.2:g.83857271A>T | GRCh38 |
| NC_000006.11:g.84566990A>T , CM000668.1:g.84566990A>T | GRCh37 |
| NC_000006.10:g.84623709A>T | NCBI36 |
| NG_046722.1:g.9006A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369689.6:c.269A>T MANE Select | ENSP00000358703.1:p.Asp90Val | |
| ENST00000369687.2:c.95A>T | ENSP00000358701.1:p.Asp32Val | |
| ENST00000369689.5:c.269A>T | ENSP00000358703.1:p.Asp90Val | |
| ENST00000635617.1:n.3682A>T | ||
| NM_001009994.2:c.269A>T | NP_001009994.1:p.Asp90Val | |
| NR_103525.1:n.326A>T | ||
| NR_103525.2:n.264A>T | ||
| NM_001009994.3:c.269A>T MANE Select | NP_001009994.1:p.Asp90Val | |
| NM_001400774.1:c.-28+3110A>T | NP_001387703.1:n.-28+3110A>T | |
| NM_001400899.1:c.332A>T | NP_001387828.1:p.Asp111Val | |
| NM_001400900.1:c.*3106A>T | NP_001387829.1:n.*3106A>T | |
| NR_174603.1:n.234+3110A>T | ||
| NR_174604.1:n.296+3110A>T | ||
| NR_174605.1:n.455+3212A>T | ||
| NR_174622.1:n.3344A>T |