Linked Data
dbSNP Id:
rs768135549
ExAC:
15:89868644 G / C
gnomAD v2:
15-89868644-G-C
gnomAD v4:
15-89325413-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325413G>C , CM000677.2:g.89325413G>C | GRCh38 |
| NC_000015.9:g.89868644G>C , CM000677.1:g.89868644G>C | GRCh37 |
| NC_000015.8:g.87669648G>C | NCBI36 |
| NG_008218.1:g.14383C>G | |
| NG_008218.2:g.14383C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1949+37C>G | ENSP00000516154.1:n.1949+37C>G | |
| ENST00000268124.11:c.1949+37C>G MANE Select | ENSP00000268124.5:n.1949+37C>G | |
| ENST00000530292.3:c.1550+37C>G | ENSP00000432885.2:n.1550+37C>G | |
| ENST00000635986.2:c.1949+37C>G | ENSP00000490653.2:n.1949+37C>G | |
| ENST00000636774.1:c.*516+37C>G | ENSP00000489799.1:n.*516+37C>G | |
| ENST00000637238.1:c.646+77C>G | ENSP00000490756.1:n.646+77C>G | |
| ENST00000637264.1:c.1021+37C>G | ||
| ENST00000666746.1:c.1526+37C>G | ||
| ENST00000670281.1:c.269+37C>G | ENSP00000499709.1:n.269+37C>G | |
| ENST00000672071.1:n.2147+37C>G | ||
| ENST00000672923.2:n.2052+37C>G | ||
| ENST00000268124.9:c.1949+37C>G | ENSP00000268124.5:n.1949+37C>G | |
| ENST00000442287.6:c.1949+37C>G | ENSP00000399851.2:n.1949+37C>G | |
| ENST00000526314.2:c.331+37C>G | ||
| ENST00000526398.1:c.138+37C>G | ||
| ENST00000526573.1:n.35+37C>G | ||
| ENST00000532584.5:n.151+37C>G | ||
| ENST00000631044.2:c.*1332+37C>G | ENSP00000486730.1:n.*1332+37C>G | |
| NM_001126131.1:c.1949+37C>G | NP_001119603.1:n.1949+37C>G | |
| NM_002693.2:c.1949+37C>G | NP_002684.1:n.1949+37C>G | |
| NM_001126131.2:c.1949+37C>G | NP_001119603.1:n.1949+37C>G | |
| NM_002693.3:c.1949+37C>G MANE Select | NP_002684.1:n.1949+37C>G |