Linked Data
dbSNP Id:
rs771749577
ExAC:
14:51095146 T / C
gnomAD v2:
14-51095146-T-C
gnomAD v4:
14-50628428-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628428T>C , CM000676.2:g.50628428T>C | GRCh38 |
| NC_000014.8:g.51095146T>C , CM000676.1:g.51095146T>C | GRCh37 |
| NC_000014.7:g.50164896T>C | NCBI36 |
| NG_009028.1:g.100347T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1517T>C | ENSP00000450989.2:p.Val506Ala | |
| ENST00000556478.3:c.1517T>C | ENSP00000501428.2:p.Val506Ala | |
| ENST00000682037.1:c.1517T>C | ENSP00000508289.1:p.Val506Ala | |
| ENST00000682219.1:n.2855T>C | ||
| ENST00000683037.1:n.1438T>C | ||
| ENST00000683330.1:n.1851T>C | ||
| ENST00000358385.12:c.1517T>C MANE Select | ENSP00000351155.7:p.Val506Ala | |
| ENST00000674288.1:c.*2809T>C | ENSP00000501522.1:n.*2809T>C | |
| ENST00000358385.10:c.1517T>C | ENSP00000351155.6:p.Val506Ala | |
| ENST00000441560.6:c.1517T>C | ENSP00000413675.2:p.Val506Ala | |
| ENST00000556067.1:c.263T>C | ENSP00000451100.1:p.Val88Ala | |
| NM_001127713.1:c.1517T>C | NP_001121185.1:p.Val506Ala | |
| NM_015915.4:c.1517T>C | NP_056999.2:p.Val506Ala | |
| NM_181598.3:c.1517T>C | NP_853629.2:p.Val506Ala | |
| NM_015915.5:c.1517T>C MANE Select | NP_056999.2:p.Val506Ala | |
| NM_181598.4:c.1517T>C | NP_853629.2:p.Val506Ala |