Linked Data
dbSNP Id:
rs934716493
gnomAD v2:
16-75513127-C-G
gnomAD v3:
16-75479229-C-G
gnomAD v4:
16-75479229-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75479229C>G , CM000678.2:g.75479229C>G | GRCh38 |
| NC_000016.9:g.75513127C>G , CM000678.1:g.75513127C>G | GRCh37 |
| NC_000016.8:g.74070628C>G | NCBI36 |
| NG_016442.1:g.20800G>C | |
| NG_016442.2:g.21213G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332272.9:c.600G>C MANE Select | ENSP00000328983.4:p.Leu200= | |
| ENST00000390664.3:c.600G>C | ENSP00000375079.2:p.Leu200= | |
| ENST00000649341.1:c.600G>C | ENSP00000497635.1:p.Leu200= | |
| ENST00000649824.1:c.600G>C | ENSP00000496806.1:p.Leu200= | |
| ENST00000332272.8:c.600G>C | ENSP00000328983.4:p.Leu200= | |
| ENST00000390664.2:c.600G>C | ENSP00000375079.2:p.Leu200= | |
| NM_021615.4:c.600G>C | NP_067628.1:p.Leu200= | |
| XM_005255955.3:c.600G>C | XP_005256012.1:p.Leu200= | |
| XM_011523085.1:c.600G>C | XP_011521387.1:p.Leu200= | |
| NM_021615.5:c.600G>C MANE Select | NP_067628.1:p.Leu200= | |
| XM_005255955.5:c.600G>C | XP_005256012.1:p.Leu200= | |
| XM_011523085.3:c.600G>C | XP_011521387.1:p.Leu200= | |
| NR_163480.1:n.733+2588G>C | ||
| NR_163481.1:n.577+2588G>C |