Linked Data
dbSNP Id:
rs752971760
gnomAD v2:
15-89864201-C-G
gnomAD v3:
15-89320970-C-G
gnomAD v4:
15-89320970-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89320970C>G , CM000677.2:g.89320970C>G | GRCh38 |
| NC_000015.9:g.89864201C>G , CM000677.1:g.89864201C>G | GRCh37 |
| NC_000015.8:g.87665205C>G | NCBI36 |
| NG_008218.1:g.18826G>C | |
| NG_008218.2:g.18826G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2777G>C | ENSP00000516154.1:p.Ser926Thr | |
| ENST00000268124.11:c.2777G>C MANE Select | ENSP00000268124.5:p.Ser926Thr | |
| ENST00000530292.3:c.2378G>C | ENSP00000432885.2:p.Ser793Thr | |
| ENST00000635986.2:c.2777G>C | ENSP00000490653.2:p.Ser926Thr | |
| ENST00000636774.1:c.*1344G>C | ENSP00000489799.1:n.*1344G>C | |
| ENST00000637238.1:c.1586G>C | ENSP00000490756.1:n.1586G>C | |
| ENST00000637264.1:c.1849G>C | ||
| ENST00000666746.1:c.2354G>C | ||
| ENST00000670281.1:c.800+992G>C | ENSP00000499709.1:n.800+992G>C | |
| ENST00000672071.1:n.2975G>C | ||
| ENST00000672923.2:n.2719G>C | ||
| ENST00000268124.9:c.2777G>C | ENSP00000268124.5:p.Ser926Thr | |
| ENST00000442287.6:c.2777G>C | ENSP00000399851.2:p.Ser926Thr | |
| ENST00000528881.2:c.374G>C | ||
| ENST00000530715.5:c.186-101G>C | ENSP00000431395.1:n.186-101G>C | |
| ENST00000631044.2:c.*2201G>C | ENSP00000486730.1:n.*2201G>C | |
| NM_001126131.1:c.2777G>C | NP_001119603.1:p.Ser926Thr | |
| NM_002693.2:c.2777G>C | NP_002684.1:p.Ser926Thr | |
| NM_001126131.2:c.2777G>C | NP_001119603.1:p.Ser926Thr | |
| NM_002693.3:c.2777G>C MANE Select | NP_002684.1:p.Ser926Thr |