Linked Data
dbSNP Id:
rs942722498
gnomAD v2:
14-77772534-G-A
gnomAD v3:
14-77306191-G-A
gnomAD v4:
14-77306191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77306191G>A , CM000676.2:g.77306191G>A | GRCh38 |
| NC_000014.8:g.77772534G>A , CM000676.1:g.77772534G>A | GRCh37 |
| NC_000014.7:g.76842287G>A | NCBI36 |
| NG_008897.1:g.19692C>T , LRG_844:g.19692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555675.6:n.313C>T | ||
| ENST00000556394.2:c.249-1391C>T | ENSP00000451967.2:n.249-1391C>T | |
| ENST00000556880.6:n.462+55C>T | ||
| ENST00000682247.1:c.438+146C>T | ENSP00000507213.1:n.438+146C>T | |
| ENST00000682382.1:c.386+146C>T | ||
| ENST00000682395.1:n.167+146C>T | ||
| ENST00000682459.1:n.102+211C>T | ||
| ENST00000682467.1:c.438+146C>T | ENSP00000508062.1:n.438+146C>T | |
| ENST00000682795.1:c.438+146C>T | ENSP00000507574.1:n.438+146C>T | |
| ENST00000682895.1:n.154+146C>T | ||
| ENST00000682955.1:n.102+211C>T | ||
| ENST00000683188.1:c.233+146C>T | ||
| ENST00000683380.1:n.102+211C>T | ||
| ENST00000683828.1:c.307+146C>T | ||
| ENST00000684102.1:n.330C>T | ||
| ENST00000684259.1:n.289+146C>T | ||
| ENST00000684479.1:n.105+146C>T | ||
| ENST00000684549.1:n.258+55C>T | ||
| ENST00000684600.1:c.252+146C>T | ||
| ENST00000684670.1:n.105+146C>T | ||
| ENST00000261534.9:c.438+146C>T MANE Select | ENSP00000261534.4:n.438+146C>T | |
| ENST00000261534.8:c.438+146C>T | ENSP00000261534.4:n.438+146C>T | |
| ENST00000452340.7:n.461+146C>T | ||
| ENST00000553863.5:n.102+211C>T | ||
| ENST00000554948.1:c.165+146C>T | ENSP00000452060.1:n.165+146C>T | |
| ENST00000555675.5:n.154+146C>T | ||
| ENST00000555788.5:n.363+55C>T | ||
| ENST00000556326.5:c.*104+146C>T | ENSP00000450630.1:n.*104+146C>T | |
| ENST00000556880.5:n.462+55C>T | ||
| ENST00000557525.1:n.528+146C>T | ||
| NM_013382.5:c.438+146C>T , LRG_844t1:c.438+146C>T | NP_037514.2:n.438+146C>T | |
| XM_011536675.1:c.438+146C>T | XP_011534977.1:n.438+146C>T | |
| XM_011536676.1:c.105+146C>T | XP_011534978.1:n.105+146C>T | |
| XM_011536677.1:c.438+146C>T | XP_011534979.1:n.438+146C>T | |
| XM_011536678.1:c.438+146C>T | XP_011534980.1:n.438+146C>T | |
| XM_011536679.1:c.-200+55C>T | XP_011534981.1:n.-200+55C>T | |
| XM_011536680.1:c.438+146C>T | XP_011534982.1:n.438+146C>T | |
| XR_943416.1:n.641+146C>T | ||
| XM_011536675.2:c.438+146C>T | XP_011534977.1:n.438+146C>T | |
| XM_011536676.2:c.105+146C>T | XP_011534978.1:n.105+146C>T | |
| XM_011536677.3:c.438+146C>T | XP_011534979.1:n.438+146C>T | |
| XR_001750279.1:n.638+146C>T | ||
| XR_001750282.1:n.642+146C>T | ||
| XR_943416.3:n.639+146C>T | ||
| NM_013382.6:c.438+146C>T | NP_037514.2:n.438+146C>T | |
| NM_013382.7:c.438+146C>T MANE Select | NP_037514.2:n.438+146C>T |