Linked Data
dbSNP Id:
rs770293522
ExAC:
16:89245903 G / C
gnomAD v2:
16-89245903-G-C
gnomAD v4:
16-89179495-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179495G>C , CM000678.2:g.89179495G>C | GRCh38 |
| NC_000016.9:g.89245903G>C , CM000678.1:g.89245903G>C | GRCh37 |
| NC_000016.8:g.87773404G>C | NCBI36 |
| NG_012055.1:g.12741G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.122G>C MANE Select | ENSP00000289746.2:p.Ser41Thr | |
| ENST00000289746.2:c.122G>C | ENSP00000289746.2:p.Ser41Thr | |
| ENST00000521087.5:n.187G>C | ||
| ENST00000524089.1:n.187G>C | ||
| NM_004933.2:c.122G>C | NP_004924.1:p.Ser41Thr | |
| XM_011522806.1:c.122G>C | XP_011521108.1:p.Ser41Thr | |
| NM_004933.3:c.122G>C MANE Select | NP_004924.1:p.Ser41Thr |