Linked Data
ClinVar Variation Id:
334393
dbSNP Id:
rs199980023
ExAC:
2:219746918 C / T
gnomAD v2:
2-219746918-C-T
gnomAD v3:
2-218882196-C-T
gnomAD v4:
2-218882196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218882196C>T , CM000664.2:g.218882196C>T | GRCh38 |
| NC_000002.11:g.219746918C>T , CM000664.1:g.219746918C>T | GRCh37 |
| NC_000002.10:g.219455162C>T | NCBI36 |
| NG_012179.1:g.6664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.149C>T MANE Select | ENSP00000258411.3:p.Pro50Leu | |
| ENST00000258411.7:c.149C>T | ENSP00000258411.3:p.Pro50Leu | |
| ENST00000458582.1:c.36C>T | ||
| NM_025216.2:c.149C>T | NP_079492.2:p.Pro50Leu | |
| XM_011511928.1:c.98C>T | XP_011510230.1:p.Pro33Leu | |
| XM_011511929.1:c.53C>T | XP_011510231.1:p.Pro18Leu | |
| XM_011511930.1:c.149C>T | XP_011510232.1:p.Pro50Leu | |
| XM_011511929.2:c.53C>T | XP_011510231.1:p.Pro18Leu | |
| NM_025216.3:c.149C>T MANE Select | NP_079492.2:p.Pro50Leu |