Linked Data
dbSNP Id:
rs577882694
ExAC:
14:77745022 G / A
gnomAD v2:
14-77745022-G-A
gnomAD v4:
14-77278679-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278679G>A , CM000676.2:g.77278679G>A | GRCh38 |
| NC_000014.8:g.77745022G>A , CM000676.1:g.77745022G>A | GRCh37 |
| NC_000014.7:g.76814775G>A | NCBI36 |
| NG_008897.1:g.47204C>T , LRG_844:g.47204C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.957+50C>T | ||
| ENST00000556394.2:c.1573+50C>T | ENSP00000451967.2:n.1573+50C>T | |
| ENST00000682247.1:c.2021+50C>T | ENSP00000507213.1:n.2021+50C>T | |
| ENST00000682395.1:n.2496+50C>T | ||
| ENST00000682459.1:n.1735+50C>T | ||
| ENST00000682467.1:c.1892-171C>T | ENSP00000508062.1:n.1892-171C>T | |
| ENST00000682795.1:c.2179+50C>T | ENSP00000507574.1:n.2179+50C>T | |
| ENST00000682895.1:n.1748+50C>T | ||
| ENST00000682955.1:n.1606+50C>T | ||
| ENST00000683188.1:c.2293+50C>T | ||
| ENST00000683380.1:n.1696+50C>T | ||
| ENST00000683907.1:c.297+50C>T | ENSP00000507754.1:n.297+50C>T | |
| ENST00000684259.1:n.3799+50C>T | ||
| ENST00000684538.1:n.1411+50C>T | ||
| ENST00000684549.1:n.1583+50C>T | ||
| ENST00000261534.9:c.2032+50C>T MANE Select | ENSP00000261534.4:n.2032+50C>T | |
| ENST00000261534.8:c.2032+50C>T | ENSP00000261534.4:n.2032+50C>T | |
| ENST00000452340.7:n.3008+50C>T | ||
| ENST00000554767.5:n.2818+50C>T | ||
| ENST00000555710.1:c.393+50C>T | ENSP00000451730.1:n.393+50C>T | |
| ENST00000556394.1:c.88-171C>T | ||
| ENST00000556446.1:n.333+50C>T | ||
| ENST00000602717.5:c.247+50C>T | ENSP00000487704.1:n.247+50C>T | |
| NM_013382.5:c.2032+50C>T , LRG_844t1:c.2032+50C>T | NP_037514.2:n.2032+50C>T | |
| XM_011536675.1:c.2221+50C>T | XP_011534977.1:n.2221+50C>T | |
| XM_011536676.1:c.1888+50C>T | XP_011534978.1:n.1888+50C>T | |
| XM_011536677.1:c.1762+50C>T | XP_011534979.1:n.1762+50C>T | |
| XM_011536679.1:c.1315+50C>T | XP_011534981.1:n.1315+50C>T | |
| XR_943416.1:n.2285+50C>T | ||
| XM_011536675.2:c.2221+50C>T | XP_011534977.1:n.2221+50C>T | |
| XM_011536676.2:c.1888+50C>T | XP_011534978.1:n.1888+50C>T | |
| XM_011536677.3:c.1762+50C>T | XP_011534979.1:n.1762+50C>T | |
| XR_001750279.1:n.2318+50C>T | ||
| XR_001750282.1:n.2971+50C>T | ||
| XR_943416.3:n.2283+50C>T | ||
| NM_013382.6:c.2032+50C>T | NP_037514.2:n.2032+50C>T | |
| NM_013382.7:c.2032+50C>T MANE Select | NP_037514.2:n.2032+50C>T |