Linked Data
dbSNP Id:
rs541964442
ExAC:
17:62018591 G / C
gnomAD v2:
17-62018591-G-C
gnomAD v4:
17-63941231-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941231G>C , CM000679.2:g.63941231G>C | GRCh38 |
| NC_000017.10:g.62018591G>C , CM000679.1:g.62018591G>C | GRCh37 |
| NC_000017.9:g.59372323G>C | NCBI36 |
| NG_011699.1:g.36688C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5051C>G MANE Select | ENSP00000396320.1:p.Thr1684Ser | |
| ENST00000578147.5:c.5051C>G | ENSP00000463963.1:p.Thr1684Ser | |
| NM_000334.4:c.5051C>G MANE Select | NP_000325.4:p.Thr1684Ser | |
| XM_005257566.3:c.5051C>G | XP_005257623.1:p.Thr1684Ser |