Linked Data
dbSNP Id:
rs761895822
ExAC:
14:21897152 C / A
gnomAD v2:
14-21897152-C-A
gnomAD v3:
14-21428993-C-A
gnomAD v4:
14-21428993-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21428993C>A , CM000676.2:g.21428993C>A | GRCh38 |
| NC_000014.8:g.21897152C>A , CM000676.1:g.21897152C>A | GRCh37 |
| NC_000014.7:g.20966992C>A | NCBI36 |
| NG_021249.1:g.13306G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430710.8:c.349G>T | ENSP00000406288.3:p.Val117Leu | |
| ENST00000553651.2:n.2992G>T | ||
| ENST00000555962.6:c.-111+2818G>T | ENSP00000495174.1:n.-111+2818G>T | |
| ENST00000557364.6:c.1186G>T | ENSP00000451601.1:p.Val396Leu | |
| ENST00000642518.1:c.349G>T | ENSP00000496722.1:p.Val117Leu | |
| ENST00000643048.1:n.1481G>T | ||
| ENST00000643469.1:c.1186G>T | ENSP00000495070.1:p.Val396Leu | |
| ENST00000645140.1:c.1098G>T | ||
| ENST00000645929.1:c.349G>T | ENSP00000494402.1:p.Val117Leu | |
| ENST00000646063.1:c.1273G>T | ENSP00000496565.1:p.Val425Leu | |
| ENST00000646340.1:c.1192G>T | ENSP00000496730.1:p.Val398Leu | |
| ENST00000646647.2:c.1186G>T MANE Select | ENSP00000495240.1:p.Val396Leu | |
| ENST00000399982.6:c.1186G>T | ENSP00000382863.2:p.Val396Leu | |
| ENST00000430710.7:c.349G>T | ENSP00000406288.3:p.Val117Leu | |
| ENST00000555962.5:n.150+2818G>T | ||
| ENST00000557364.5:c.1186G>T | ENSP00000451601.1:p.Val396Leu | |
| NM_001170629.1:c.1186G>T | NP_001164100.1:p.Val396Leu | |
| NM_020920.3:c.349G>T | NP_065971.2:p.Val117Leu | |
| NM_001170629.2:c.1186G>T MANE Select | NP_001164100.1:p.Val396Leu | |
| NM_020920.4:c.349G>T | NP_065971.2:p.Val117Leu |