Linked Data
dbSNP Id:
rs774724343
ExAC:
2:203421138 C / T
gnomAD v2:
2-203421138-C-T
gnomAD v4:
2-202556415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556415C>T , CM000664.2:g.202556415C>T | GRCh38 |
| NC_000002.11:g.203421138C>T , CM000664.1:g.203421138C>T | GRCh37 |
| NC_000002.10:g.203129383C>T | NCBI36 |
| NG_009363.1:g.185089C>T , LRG_712:g.185089C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2750C>T MANE Select | ENSP00000363708.4:p.Ala917Val | |
| ENST00000638587.1:c.2681C>T | ENSP00000491062.1:n.2681C>T | |
| ENST00000374574.2:c.1587-3281C>T | ENSP00000363702.2:n.1587-3281C>T | |
| ENST00000374580.8:c.2750C>T | ENSP00000363708.4:p.Ala917Val | |
| NM_001204.6:c.2750C>T , LRG_712t1:c.2750C>T | NP_001195.2:p.Ala917Val | |
| XM_011511687.1:c.2750C>T | XP_011509989.1:p.Ala917Val | |
| XM_011511688.1:c.1587-3281C>T | XP_011509990.1:n.1587-3281C>T | |
| NM_001204.7:c.2750C>T MANE Select | NP_001195.2:p.Ala917Val |