Linked Data
dbSNP Id:
rs1045659988
gnomAD v2:
14-77745034-C-T
gnomAD v3:
14-77278691-C-T
gnomAD v4:
14-77278691-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278691C>T , CM000676.2:g.77278691C>T | GRCh38 |
| NC_000014.8:g.77745034C>T , CM000676.1:g.77745034C>T | GRCh37 |
| NC_000014.7:g.76814787C>T | NCBI36 |
| NG_008897.1:g.47192G>A , LRG_844:g.47192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.957+38G>A | ||
| ENST00000556394.2:c.1573+38G>A | ENSP00000451967.2:n.1573+38G>A | |
| ENST00000682247.1:c.2021+38G>A | ENSP00000507213.1:n.2021+38G>A | |
| ENST00000682395.1:n.2496+38G>A | ||
| ENST00000682459.1:n.1735+38G>A | ||
| ENST00000682467.1:c.1892-183G>A | ENSP00000508062.1:n.1892-183G>A | |
| ENST00000682795.1:c.2179+38G>A | ENSP00000507574.1:n.2179+38G>A | |
| ENST00000682895.1:n.1748+38G>A | ||
| ENST00000682955.1:n.1606+38G>A | ||
| ENST00000683188.1:c.2293+38G>A | ||
| ENST00000683380.1:n.1696+38G>A | ||
| ENST00000683907.1:c.297+38G>A | ENSP00000507754.1:n.297+38G>A | |
| ENST00000684259.1:n.3799+38G>A | ||
| ENST00000684538.1:n.1411+38G>A | ||
| ENST00000684549.1:n.1583+38G>A | ||
| ENST00000261534.9:c.2032+38G>A MANE Select | ENSP00000261534.4:n.2032+38G>A | |
| ENST00000261534.8:c.2032+38G>A | ENSP00000261534.4:n.2032+38G>A | |
| ENST00000452340.7:n.3008+38G>A | ||
| ENST00000554767.5:n.2818+38G>A | ||
| ENST00000555710.1:c.393+38G>A | ENSP00000451730.1:n.393+38G>A | |
| ENST00000556394.1:c.88-183G>A | ||
| ENST00000556446.1:n.333+38G>A | ||
| ENST00000602717.5:c.247+38G>A | ENSP00000487704.1:n.247+38G>A | |
| NM_013382.5:c.2032+38G>A , LRG_844t1:c.2032+38G>A | NP_037514.2:n.2032+38G>A | |
| XM_011536675.1:c.2221+38G>A | XP_011534977.1:n.2221+38G>A | |
| XM_011536676.1:c.1888+38G>A | XP_011534978.1:n.1888+38G>A | |
| XM_011536677.1:c.1762+38G>A | XP_011534979.1:n.1762+38G>A | |
| XM_011536679.1:c.1315+38G>A | XP_011534981.1:n.1315+38G>A | |
| XR_943416.1:n.2285+38G>A | ||
| XM_011536675.2:c.2221+38G>A | XP_011534977.1:n.2221+38G>A | |
| XM_011536676.2:c.1888+38G>A | XP_011534978.1:n.1888+38G>A | |
| XM_011536677.3:c.1762+38G>A | XP_011534979.1:n.1762+38G>A | |
| XR_001750279.1:n.2318+38G>A | ||
| XR_001750282.1:n.2971+38G>A | ||
| XR_943416.3:n.2283+38G>A | ||
| NM_013382.6:c.2032+38G>A | NP_037514.2:n.2032+38G>A | |
| NM_013382.7:c.2032+38G>A MANE Select | NP_037514.2:n.2032+38G>A |