Linked Data
ClinVar Variation Id:
317803
dbSNP Id:
rs886051658
gnomAD v2:
16-1401972-G-T
gnomAD v3:
16-1351971-G-T
gnomAD v4:
16-1351971-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1351971G>T , CM000678.2:g.1351971G>T | GRCh38 |
| NC_000016.9:g.1401972G>T , CM000678.1:g.1401972G>T | GRCh37 |
| NC_000016.8:g.1341973G>T | NCBI36 |
| NG_016985.1:g.5073G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.26G>T | ||
| ENST00000529110.2:c.6G>T | ENSP00000435349.2:p.Ala2= | |
| ENST00000683366.1:c.6G>T | ENSP00000507283.1:p.Ala2= | |
| ENST00000683887.1:c.6G>T | ENSP00000506886.1:p.Ala2= | |
| ENST00000204679.9:c.6G>T MANE Select | ENSP00000204679.4:p.Ala2= | |
| ENST00000204679.8:c.6G>T | ENSP00000204679.4:p.Ala2= | |
| ENST00000526820.5:c.6G>T | ENSP00000434413.1:p.Ala2= | |
| ENST00000527137.2:c.6G>T | ENSP00000480060.1:p.Ala2= | |
| ENST00000527168.5:n.18G>T | ||
| ENST00000527876.5:c.6G>T | ENSP00000460728.1:p.Ala2= | |
| ENST00000529957.5:n.26G>T | ||
| ENST00000534197.5:n.24G>T | ||
| NM_032520.4:c.6G>T | NP_115909.1:p.Ala2= | |
| XM_017023782.1:c.6G>T | XP_016879271.1:p.Ala2= | |
| NM_032520.5:c.6G>T MANE Select | NP_115909.1:p.Ala2= |