Linked Data
dbSNP Id:
rs1287384190
gnomAD v2:
X-105277511-C-G
gnomAD v3:
X-106033520-C-G
gnomAD v4:
X-106033520-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033520C>G , CM000685.2:g.106033520C>G | GRCh38 |
| NC_000023.10:g.105277511C>G , CM000685.1:g.105277511C>G | GRCh37 |
| NC_000023.9:g.105164167C>G | NCBI36 |
| NG_021252.1:g.10208G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1228G>C MANE Select | ENSP00000361644.1:p.Val410Leu | |
| ENST00000327674.8:c.1228G>C | ENSP00000329374.4:p.Val410Leu | |
| ENST00000372563.1:c.1228G>C | ENSP00000361644.1:p.Val410Leu | |
| NM_000354.5:c.1228G>C | NP_000345.2:p.Val410Leu | |
| XM_006724683.1:c.1258G>C | XP_006724746.1:p.Val420Leu | |
| XM_005262180.4:c.*173G>C | XP_005262237.1:n.*173G>C | |
| XM_006724683.2:c.1258G>C | XP_006724746.1:p.Val420Leu | |
| NM_000354.6:c.1228G>C MANE Select | NP_000345.2:p.Val410Leu |