Linked Data
dbSNP Id:
rs746362045
ExAC:
19:49206894 G / A
gnomAD v2:
19-49206894-G-A
gnomAD v3:
19-48703637-G-A
gnomAD v4:
19-48703637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703637G>A , CM000681.2:g.48703637G>A | GRCh38 |
| NC_000019.9:g.49206894G>A , CM000681.1:g.49206894G>A | GRCh37 |
| NC_000019.8:g.53898706G>A | NCBI36 |
| NG_007511.1:g.12667G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.681G>A MANE Select | ENSP00000387498.2:p.Leu227= | |
| ENST00000522966.2:c.681G>A | ENSP00000430227.2:p.Leu227= | |
| ENST00000391876.5:c.681G>A | ENSP00000375748.4:p.Leu227= | |
| ENST00000425340.2:c.681G>A | ENSP00000387498.2:p.Leu227= | |
| NM_000511.5:c.681G>A | NP_000502.4:p.Leu227= | |
| NM_001097638.2:c.681G>A | NP_001091107.1:p.Leu227= | |
| NR_131188.1:n.212C>T | ||
| NM_000511.6:c.681G>A MANE Select | NP_000502.4:p.Leu227= | |
| NM_001097638.3:c.681G>A | NP_001091107.1:p.Leu227= |