Linked Data
dbSNP Id:
rs151193706
ExAC:
12:94243758 C / G
gnomAD v2:
12-94243758-C-G
gnomAD v3:
12-93849982-C-G
gnomAD v4:
12-93849982-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93849982C>G , CM000674.2:g.93849982C>G | GRCh38 |
| NC_000012.11:g.94243758C>G , CM000674.1:g.94243758C>G | GRCh37 |
| NC_000012.10:g.92767889C>G | NCBI36 |
| NG_032159.1:g.177608C>G | |
| NG_032159.2:g.177608C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332896.8:c.311C>G MANE Select | ENSP00000327647.3:p.Thr104Ser | |
| ENST00000332896.7:c.311C>G | ENSP00000327647.3:p.Thr104Ser | |
| ENST00000542893.2:c.311C>G | ENSP00000439068.2:p.Thr104Ser | |
| ENST00000548330.1:n.696C>G | ||
| ENST00000548483.5:c.299-44068C>G | ENSP00000448685.1:n.299-44068C>G | |
| ENST00000550030.1:n.111C>G | ||
| ENST00000551065.5:c.299-9337C>G | ENSP00000448425.1:n.299-9337C>G | |
| ENST00000609189.1:n.87C>G | ||
| NM_003805.3:c.311C>G | NP_003796.1:p.Thr104Ser | |
| XM_005269211.3:c.299-44068C>G | XP_005269268.1:n.299-44068C>G | |
| NM_001320099.1:c.311C>G | NP_001307028.1:p.Thr104Ser | |
| NM_001320100.1:c.299-44068C>G | NP_001307029.1:n.299-44068C>G | |
| NM_003805.4:c.311C>G | NP_003796.1:p.Thr104Ser | |
| NR_135147.1:n.407-9337C>G | ||
| XM_017020144.1:c.299-9337C>G | XP_016875633.1:n.299-9337C>G | |
| XR_001748908.1:n.616C>G | ||
| XR_001748909.1:n.612C>G | ||
| XR_001748910.1:n.430-9337C>G | ||
| NM_003805.5:c.311C>G MANE Select | NP_003796.1:p.Thr104Ser | |
| NM_001320099.2:c.311C>G | NP_001307028.1:p.Thr104Ser | |
| NM_001320100.2:c.299-44068C>G | NP_001307029.1:n.299-44068C>G | |
| NR_135147.2:n.403-9337C>G |