Linked Data
dbSNP Id:
rs371670012
gnomAD v2:
14-77744920-G-C
gnomAD v3:
14-77278577-G-C
gnomAD v4:
14-77278577-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278577G>C , CM000676.2:g.77278577G>C | GRCh38 |
| NC_000014.8:g.77744920G>C , CM000676.1:g.77744920G>C | GRCh37 |
| NC_000014.7:g.76814673G>C | NCBI36 |
| NG_008897.1:g.47306C>G , LRG_844:g.47306C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.958-69C>G | ||
| ENST00000556394.2:c.1574-69C>G | ENSP00000451967.2:n.1574-69C>G | |
| ENST00000682247.1:c.2022-69C>G | ENSP00000507213.1:n.2022-69C>G | |
| ENST00000682395.1:n.2497-69C>G | ||
| ENST00000682459.1:n.1736-69C>G | ||
| ENST00000682467.1:c.1892-69C>G | ENSP00000508062.1:n.1892-69C>G | |
| ENST00000682795.1:c.2180-69C>G | ENSP00000507574.1:n.2180-69C>G | |
| ENST00000682895.1:n.1749-69C>G | ||
| ENST00000682955.1:n.1607-69C>G | ||
| ENST00000683188.1:c.2294-69C>G | ||
| ENST00000683380.1:n.1697-69C>G | ||
| ENST00000683907.1:c.298-69C>G | ENSP00000507754.1:n.298-69C>G | |
| ENST00000684259.1:n.3800-69C>G | ||
| ENST00000684538.1:n.1412-69C>G | ||
| ENST00000684549.1:n.1584-69C>G | ||
| ENST00000261534.9:c.2033-69C>G MANE Select | ENSP00000261534.4:n.2033-69C>G | |
| ENST00000261534.8:c.2033-69C>G | ENSP00000261534.4:n.2033-69C>G | |
| ENST00000452340.7:n.3009-69C>G | ||
| ENST00000554767.5:n.2819-69C>G | ||
| ENST00000555710.1:c.394-69C>G | ENSP00000451730.1:n.394-69C>G | |
| ENST00000556394.1:c.88-69C>G | ||
| ENST00000556446.1:n.334-69C>G | ||
| ENST00000602717.5:c.248-69C>G | ENSP00000487704.1:n.248-69C>G | |
| NM_013382.5:c.2033-69C>G , LRG_844t1:c.2033-69C>G | NP_037514.2:n.2033-69C>G | |
| XM_011536675.1:c.2222-69C>G | XP_011534977.1:n.2222-69C>G | |
| XM_011536676.1:c.1889-69C>G | XP_011534978.1:n.1889-69C>G | |
| XM_011536677.1:c.1763-69C>G | XP_011534979.1:n.1763-69C>G | |
| XM_011536679.1:c.1316-69C>G | XP_011534981.1:n.1316-69C>G | |
| XR_943416.1:n.2286-69C>G | ||
| XM_011536675.2:c.2222-69C>G | XP_011534977.1:n.2222-69C>G | |
| XM_011536676.2:c.1889-69C>G | XP_011534978.1:n.1889-69C>G | |
| XM_011536677.3:c.1763-69C>G | XP_011534979.1:n.1763-69C>G | |
| XR_001750279.1:n.2319-69C>G | ||
| XR_001750282.1:n.2972-69C>G | ||
| XR_943416.3:n.2284-69C>G | ||
| NM_013382.6:c.2033-69C>G | NP_037514.2:n.2033-69C>G | |
| NM_013382.7:c.2033-69C>G MANE Select | NP_037514.2:n.2033-69C>G |