Linked Data
dbSNP Id:
rs564282031
gnomAD v2:
14-77772509-C-T
gnomAD v3:
14-77306166-C-T
gnomAD v4:
14-77306166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306166C>T , CM000676.2:g.77306166C>T | GRCh38 |
| NC_000014.8:g.77772509C>T , CM000676.1:g.77772509C>T | GRCh37 |
| NC_000014.7:g.76842262C>T | NCBI36 |
| NG_008897.1:g.19717G>A , LRG_844:g.19717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.338G>A | ||
| ENST00000556394.2:c.249-1366G>A | ENSP00000451967.2:n.249-1366G>A | |
| ENST00000556880.6:n.462+80G>A | ||
| ENST00000682247.1:c.438+171G>A | ENSP00000507213.1:n.438+171G>A | |
| ENST00000682382.1:c.386+171G>A | ||
| ENST00000682395.1:n.167+171G>A | ||
| ENST00000682459.1:n.102+236G>A | ||
| ENST00000682467.1:c.438+171G>A | ENSP00000508062.1:n.438+171G>A | |
| ENST00000682795.1:c.438+171G>A | ENSP00000507574.1:n.438+171G>A | |
| ENST00000682895.1:n.154+171G>A | ||
| ENST00000682955.1:n.102+236G>A | ||
| ENST00000683188.1:c.233+171G>A | ||
| ENST00000683380.1:n.102+236G>A | ||
| ENST00000683828.1:c.307+171G>A | ||
| ENST00000684102.1:n.355G>A | ||
| ENST00000684259.1:n.289+171G>A | ||
| ENST00000684479.1:n.105+171G>A | ||
| ENST00000684549.1:n.258+80G>A | ||
| ENST00000684600.1:c.252+171G>A | ||
| ENST00000684670.1:n.105+171G>A | ||
| ENST00000261534.9:c.438+171G>A MANE Select | ENSP00000261534.4:n.438+171G>A | |
| ENST00000261534.8:c.438+171G>A | ENSP00000261534.4:n.438+171G>A | |
| ENST00000452340.7:n.461+171G>A | ||
| ENST00000553863.5:n.102+236G>A | ||
| ENST00000554948.1:c.165+171G>A | ENSP00000452060.1:n.165+171G>A | |
| ENST00000555675.5:n.154+171G>A | ||
| ENST00000555788.5:n.363+80G>A | ||
| ENST00000556326.5:c.*104+171G>A | ENSP00000450630.1:n.*104+171G>A | |
| ENST00000556880.5:n.462+80G>A | ||
| ENST00000557525.1:n.528+171G>A | ||
| NM_013382.5:c.438+171G>A , LRG_844t1:c.438+171G>A | NP_037514.2:n.438+171G>A | |
| XM_011536675.1:c.438+171G>A | XP_011534977.1:n.438+171G>A | |
| XM_011536676.1:c.105+171G>A | XP_011534978.1:n.105+171G>A | |
| XM_011536677.1:c.438+171G>A | XP_011534979.1:n.438+171G>A | |
| XM_011536678.1:c.438+171G>A | XP_011534980.1:n.438+171G>A | |
| XM_011536679.1:c.-200+80G>A | XP_011534981.1:n.-200+80G>A | |
| XM_011536680.1:c.438+171G>A | XP_011534982.1:n.438+171G>A | |
| XR_943416.1:n.641+171G>A | ||
| XM_011536675.2:c.438+171G>A | XP_011534977.1:n.438+171G>A | |
| XM_011536676.2:c.105+171G>A | XP_011534978.1:n.105+171G>A | |
| XM_011536677.3:c.438+171G>A | XP_011534979.1:n.438+171G>A | |
| XR_001750279.1:n.638+171G>A | ||
| XR_001750282.1:n.642+171G>A | ||
| XR_943416.3:n.639+171G>A | ||
| NM_013382.6:c.438+171G>A | NP_037514.2:n.438+171G>A | |
| NM_013382.7:c.438+171G>A MANE Select | NP_037514.2:n.438+171G>A |