Linked Data
dbSNP Id:
rs750229375
ExAC:
15:74710300 T / C
gnomAD v2:
15-74710300-T-C
gnomAD v4:
15-74417959-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74417959T>C , CM000677.2:g.74417959T>C | GRCh38 |
| NC_000015.9:g.74710300T>C , CM000677.1:g.74710300T>C | GRCh37 |
| NC_000015.8:g.72497353T>C | NCBI36 |
| NG_011733.1:g.21000A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261918.9:c.383A>G MANE Select | ENSP00000261918.4:p.Asn128Ser | |
| ENST00000542748.6:c.-113A>G | ENSP00000441493.1:n.-113A>G | |
| ENST00000261918.8:c.383A>G | ENSP00000261918.4:p.Asn128Ser | |
| ENST00000542748.5:c.-113A>G | ENSP00000441493.1:n.-113A>G | |
| ENST00000543145.6:c.341A>G | ENSP00000438966.2:p.Asn114Ser | |
| ENST00000567345.1:c.-113A>G | ENSP00000454365.1:n.-113A>G | |
| NM_001146029.1:c.341A>G | NP_001139501.1:p.Asn114Ser | |
| NM_001146030.1:c.-113A>G | NP_001139502.1:n.-113A>G | |
| NM_003612.3:c.383A>G | NP_003603.1:p.Asn128Ser | |
| NM_001146029.2:c.341A>G | NP_001139501.1:p.Asn114Ser | |
| NM_001146030.2:c.-113A>G | NP_001139502.1:n.-113A>G | |
| NM_003612.4:c.383A>G | NP_003603.1:p.Asn128Ser | |
| NM_003612.5:c.383A>G MANE Select | NP_003603.1:p.Asn128Ser | |
| NM_001146029.3:c.341A>G | NP_001139501.1:p.Asn114Ser | |
| NM_001146030.3:c.-113A>G | NP_001139502.1:n.-113A>G |