Linked Data
dbSNP Id:
rs558323439
ExAC:
17:62020360 C / G
gnomAD v2:
17-62020360-C-G
gnomAD v3:
17-63943000-C-G
gnomAD v4:
17-63943000-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63943000C>G , CM000679.2:g.63943000C>G | GRCh38 |
| NC_000017.10:g.62020360C>G , CM000679.1:g.62020360C>G | GRCh37 |
| NC_000017.9:g.59374092C>G | NCBI36 |
| NG_011699.1:g.34919G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4114G>C MANE Select | ENSP00000396320.1:p.Val1372Leu | |
| ENST00000578147.5:c.4114G>C | ENSP00000463963.1:p.Val1372Leu | |
| NM_000334.4:c.4114G>C MANE Select | NP_000325.4:p.Val1372Leu | |
| XM_005257566.3:c.4114G>C | XP_005257623.1:p.Val1372Leu |