Linked Data
dbSNP Id:
rs746289365
ExAC:
14:77772790 G / A
gnomAD v2:
14-77772790-G-A
gnomAD v4:
14-77306447-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306447G>A , CM000676.2:g.77306447G>A | GRCh38 |
| NC_000014.8:g.77772790G>A , CM000676.1:g.77772790G>A | GRCh37 |
| NC_000014.7:g.76842543G>A | NCBI36 |
| NG_008897.1:g.19436C>T , LRG_844:g.19436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.57C>T | ||
| ENST00000556394.2:c.249-1647C>T | ENSP00000451967.2:n.249-1647C>T | |
| ENST00000556880.6:n.267-6C>T | ||
| ENST00000682247.1:c.334-6C>T | ENSP00000507213.1:n.334-6C>T | |
| ENST00000682382.1:c.282-6C>T | ||
| ENST00000682395.1:n.57C>T | ||
| ENST00000682459.1:n.57C>T | ||
| ENST00000682467.1:c.334-6C>T | ENSP00000508062.1:n.334-6C>T | |
| ENST00000682795.1:c.334-6C>T | ENSP00000507574.1:n.334-6C>T | |
| ENST00000682895.1:n.44C>T | ||
| ENST00000682955.1:n.57C>T | ||
| ENST00000683188.1:c.129-6C>T | ||
| ENST00000683380.1:n.57C>T | ||
| ENST00000683828.1:c.203-6C>T | ||
| ENST00000684066.1:n.29-6C>T | ||
| ENST00000684102.1:n.80-6C>T | ||
| ENST00000684259.1:n.185-6C>T | ||
| ENST00000684549.1:n.57C>T | ||
| ENST00000684600.1:c.148-6C>T | ||
| ENST00000684746.1:n.31-6C>T | ||
| ENST00000261534.9:c.334-6C>T MANE Select | ENSP00000261534.4:n.334-6C>T | |
| ENST00000261534.8:c.334-6C>T | ENSP00000261534.4:n.334-6C>T | |
| ENST00000452340.7:n.357-6C>T | ||
| ENST00000553863.5:n.57C>T | ||
| ENST00000554948.1:c.61-6C>T | ENSP00000452060.1:n.61-6C>T | |
| ENST00000555675.5:n.44C>T | ||
| ENST00000555788.5:n.168-6C>T | ||
| ENST00000556326.5:c.249-6C>T | ENSP00000450630.1:n.249-6C>T | |
| ENST00000556880.5:n.267-6C>T | ||
| ENST00000557525.1:n.424-6C>T | ||
| NM_013382.5:c.334-6C>T , LRG_844t1:c.334-6C>T | NP_037514.2:n.334-6C>T | |
| XM_011536675.1:c.334-6C>T | XP_011534977.1:n.334-6C>T | |
| XM_011536676.1:c.1-6C>T | XP_011534978.1:n.1-6C>T | |
| XM_011536677.1:c.334-6C>T | XP_011534979.1:n.334-6C>T | |
| XM_011536678.1:c.334-6C>T | XP_011534980.1:n.334-6C>T | |
| XM_011536680.1:c.334-6C>T | XP_011534982.1:n.334-6C>T | |
| XR_943416.1:n.537-6C>T | ||
| XM_011536675.2:c.334-6C>T | XP_011534977.1:n.334-6C>T | |
| XM_011536676.2:c.1-6C>T | XP_011534978.1:n.1-6C>T | |
| XM_011536677.3:c.334-6C>T | XP_011534979.1:n.334-6C>T | |
| XR_001750279.1:n.534-6C>T | ||
| XR_001750282.1:n.538-6C>T | ||
| XR_943416.3:n.535-6C>T | ||
| NM_013382.6:c.334-6C>T | NP_037514.2:n.334-6C>T | |
| NM_013382.7:c.334-6C>T MANE Select | NP_037514.2:n.334-6C>T |