Linked Data
dbSNP Id:
rs772349419
ExAC:
14:77745256 C / T
gnomAD v2:
14-77745256-C-T
gnomAD v4:
14-77278913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278913C>T , CM000676.2:g.77278913C>T | GRCh38 |
| NC_000014.8:g.77745256C>T , CM000676.1:g.77745256C>T | GRCh37 |
| NC_000014.7:g.76815009C>T | NCBI36 |
| NG_008897.1:g.46970G>A , LRG_844:g.46970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.817-44G>A | ||
| ENST00000556394.2:c.1433-44G>A | ENSP00000451967.2:n.1433-44G>A | |
| ENST00000682128.1:c.193-44G>A | ENSP00000506976.1:n.193-44G>A | |
| ENST00000682247.1:c.1892-55G>A | ENSP00000507213.1:n.1892-55G>A | |
| ENST00000682395.1:n.2356-44G>A | ||
| ENST00000682459.1:n.1595-44G>A | ||
| ENST00000682467.1:c.1892-405G>A | ENSP00000508062.1:n.1892-405G>A | |
| ENST00000682615.1:n.246-44G>A | ||
| ENST00000682795.1:c.2039-44G>A | ENSP00000507574.1:n.2039-44G>A | |
| ENST00000682895.1:n.1608-44G>A | ||
| ENST00000682955.1:n.1466-44G>A | ||
| ENST00000683095.1:c.298-44G>A | ENSP00000508040.1:n.298-44G>A | |
| ENST00000683188.1:c.2153-44G>A | ||
| ENST00000683380.1:n.1556-44G>A | ||
| ENST00000683828.1:c.1601-44G>A | ||
| ENST00000683907.1:c.157-44G>A | ENSP00000507754.1:n.157-44G>A | |
| ENST00000684172.1:c.268-44G>A | ENSP00000508391.1:n.268-44G>A | |
| ENST00000684259.1:n.3615G>A | ||
| ENST00000684538.1:n.1227G>A | ||
| ENST00000684549.1:n.1443-44G>A | ||
| ENST00000261534.9:c.1892-44G>A MANE Select | ENSP00000261534.4:n.1892-44G>A | |
| ENST00000261534.8:c.1892-44G>A | ENSP00000261534.4:n.1892-44G>A | |
| ENST00000452340.7:n.2824G>A | ||
| ENST00000554767.5:n.2678-44G>A | ||
| ENST00000555134.1:n.817-44G>A | ||
| ENST00000555710.1:c.209G>A | ENSP00000451730.1:p.Cys70Tyr | |
| ENST00000556171.1:c.484-44G>A | ||
| ENST00000556394.1:c.88-405G>A | ||
| ENST00000556446.1:n.149G>A | ||
| ENST00000602717.5:c.107-44G>A | ENSP00000487704.1:n.107-44G>A | |
| NM_013382.5:c.1892-44G>A , LRG_844t1:c.1892-44G>A | NP_037514.2:n.1892-44G>A | |
| XM_011536675.1:c.2081-44G>A | XP_011534977.1:n.2081-44G>A | |
| XM_011536676.1:c.1748-44G>A | XP_011534978.1:n.1748-44G>A | |
| XM_011536677.1:c.1622-44G>A | XP_011534979.1:n.1622-44G>A | |
| XM_011536678.1:c.*585G>A | XP_011534980.1:n.*585G>A | |
| XM_011536679.1:c.1175-44G>A | XP_011534981.1:n.1175-44G>A | |
| XR_943416.1:n.2145-44G>A | ||
| XM_011536675.2:c.2081-44G>A | XP_011534977.1:n.2081-44G>A | |
| XM_011536676.2:c.1748-44G>A | XP_011534978.1:n.1748-44G>A | |
| XM_011536677.3:c.1622-44G>A | XP_011534979.1:n.1622-44G>A | |
| XR_001750279.1:n.2178-44G>A | ||
| XR_001750282.1:n.2831-44G>A | ||
| XR_943416.3:n.2143-44G>A | ||
| NM_013382.6:c.1892-44G>A | NP_037514.2:n.1892-44G>A | |
| NM_013382.7:c.1892-44G>A MANE Select | NP_037514.2:n.1892-44G>A |