Linked Data
dbSNP Id:
rs760292350
gnomAD v2:
14-77745380-G-A
gnomAD v3:
14-77279037-G-A
gnomAD v4:
14-77279037-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77279037G>A , CM000676.2:g.77279037G>A | GRCh38 |
| NC_000014.8:g.77745380G>A , CM000676.1:g.77745380G>A | GRCh37 |
| NC_000014.7:g.76815133G>A | NCBI36 |
| NG_008897.1:g.46846C>T , LRG_844:g.46846C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.817-168C>T | ||
| ENST00000556394.2:c.1433-168C>T | ENSP00000451967.2:n.1433-168C>T | |
| ENST00000682128.1:c.193-168C>T | ENSP00000506976.1:n.193-168C>T | |
| ENST00000682247.1:c.1892-179C>T | ENSP00000507213.1:n.1892-179C>T | |
| ENST00000682395.1:n.2356-168C>T | ||
| ENST00000682459.1:n.1595-168C>T | ||
| ENST00000682467.1:c.1892-529C>T | ENSP00000508062.1:n.1892-529C>T | |
| ENST00000682615.1:n.246-168C>T | ||
| ENST00000682795.1:c.2039-168C>T | ENSP00000507574.1:n.2039-168C>T | |
| ENST00000682895.1:n.1608-168C>T | ||
| ENST00000682955.1:n.1466-168C>T | ||
| ENST00000683095.1:c.298-168C>T | ENSP00000508040.1:n.298-168C>T | |
| ENST00000683188.1:c.2153-168C>T | ||
| ENST00000683380.1:n.1556-168C>T | ||
| ENST00000683828.1:c.1601-168C>T | ||
| ENST00000683907.1:c.157-168C>T | ENSP00000507754.1:n.157-168C>T | |
| ENST00000684172.1:c.268-168C>T | ENSP00000508391.1:n.268-168C>T | |
| ENST00000684259.1:n.3491C>T | ||
| ENST00000684538.1:n.1103C>T | ||
| ENST00000684549.1:n.1443-168C>T | ||
| ENST00000261534.9:c.1892-168C>T MANE Select | ENSP00000261534.4:n.1892-168C>T | |
| ENST00000261534.8:c.1892-168C>T | ENSP00000261534.4:n.1892-168C>T | |
| ENST00000452340.7:n.2700C>T | ||
| ENST00000554767.5:n.2678-168C>T | ||
| ENST00000555134.1:n.817-168C>T | ||
| ENST00000555710.1:c.161-76C>T | ENSP00000451730.1:n.161-76C>T | |
| ENST00000556171.1:c.484-168C>T | ||
| ENST00000556394.1:c.88-529C>T | ||
| ENST00000556446.1:n.25C>T | ||
| ENST00000602717.5:c.107-168C>T | ENSP00000487704.1:n.107-168C>T | |
| NM_013382.5:c.1892-168C>T , LRG_844t1:c.1892-168C>T | NP_037514.2:n.1892-168C>T | |
| XM_011536675.1:c.2081-168C>T | XP_011534977.1:n.2081-168C>T | |
| XM_011536676.1:c.1748-168C>T | XP_011534978.1:n.1748-168C>T | |
| XM_011536677.1:c.1622-168C>T | XP_011534979.1:n.1622-168C>T | |
| XM_011536678.1:c.*461C>T | XP_011534980.1:n.*461C>T | |
| XM_011536679.1:c.1175-168C>T | XP_011534981.1:n.1175-168C>T | |
| XR_943416.1:n.2145-168C>T | ||
| XM_011536675.2:c.2081-168C>T | XP_011534977.1:n.2081-168C>T | |
| XM_011536676.2:c.1748-168C>T | XP_011534978.1:n.1748-168C>T | |
| XM_011536677.3:c.1622-168C>T | XP_011534979.1:n.1622-168C>T | |
| XR_001750279.1:n.2178-168C>T | ||
| XR_001750282.1:n.2831-168C>T | ||
| XR_943416.3:n.2143-168C>T | ||
| NM_013382.6:c.1892-168C>T | NP_037514.2:n.1892-168C>T | |
| NM_013382.7:c.1892-168C>T MANE Select | NP_037514.2:n.1892-168C>T |