Linked Data
dbSNP Id:
rs756320893
ExAC:
16:75513012 G / T
gnomAD v2:
16-75513012-G-T
gnomAD v4:
16-75479114-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479114G>T , CM000678.2:g.75479114G>T | GRCh38 |
| NC_000016.9:g.75513012G>T , CM000678.1:g.75513012G>T | GRCh37 |
| NC_000016.8:g.74070513G>T | NCBI36 |
| NG_016442.1:g.20915C>A | |
| NG_016442.2:g.21328C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.715C>A MANE Select | ENSP00000328983.4:p.Leu239Met | |
| ENST00000390664.3:c.715C>A | ENSP00000375079.2:p.Leu239Met | |
| ENST00000649341.1:c.715C>A | ENSP00000497635.1:p.Leu239Met | |
| ENST00000649824.1:c.715C>A | ENSP00000496806.1:p.Leu239Met | |
| ENST00000332272.8:c.715C>A | ENSP00000328983.4:p.Leu239Met | |
| ENST00000390664.2:c.715C>A | ENSP00000375079.2:p.Leu239Met | |
| NM_021615.4:c.715C>A | NP_067628.1:p.Leu239Met | |
| XM_005255955.3:c.715C>A | XP_005256012.1:p.Leu239Met | |
| XM_011523085.1:c.715C>A | XP_011521387.1:p.Leu239Met | |
| NM_021615.5:c.715C>A MANE Select | NP_067628.1:p.Leu239Met | |
| XM_005255955.5:c.715C>A | XP_005256012.1:p.Leu239Met | |
| XM_011523085.3:c.715C>A | XP_011521387.1:p.Leu239Met | |
| NR_163480.1:n.733+2703C>A | ||
| NR_163481.1:n.577+2703C>A |