Linked Data
ClinVar Variation Id:
246545
dbSNP Id:
rs879254306
gnomAD v2:
14-105179762-G-C
gnomAD v3:
14-104713425-G-C
gnomAD v4:
14-104713425-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104713425G>C , CM000676.2:g.104713425G>C | GRCh38 |
| NC_000014.8:g.105179762G>C , CM000676.1:g.105179762G>C | GRCh37 |
| NC_000014.7:g.104250807G>C | NCBI36 |
| NG_027684.1:g.28820G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.2879-20G>C MANE Select | ENSP00000376410.4:n.2879-20G>C | |
| ENST00000617571.5:c.2879-24G>C | ENSP00000483829.2:n.2879-24G>C | |
| ENST00000674520.1:c.2874-20G>C | ENSP00000502593.1:n.2874-20G>C | |
| ENST00000674631.1:c.917-20G>C | ENSP00000502830.1:n.917-20G>C | |
| ENST00000674662.1:c.2883-20G>C | ENSP00000501895.1:n.2883-20G>C | |
| ENST00000674757.1:c.2884-20G>C | ENSP00000502202.1:n.2884-20G>C | |
| ENST00000674822.1:c.2763-20G>C | ENSP00000501552.1:n.2763-20G>C | |
| ENST00000674846.1:c.2874-20G>C | ENSP00000502431.1:n.2874-20G>C | |
| ENST00000674857.1:c.2868-20G>C | ENSP00000501687.1:n.2868-20G>C | |
| ENST00000674960.1:c.2737-20G>C | ENSP00000501841.1:n.2737-20G>C | |
| ENST00000674991.1:c.2129-20G>C | ENSP00000502004.1:n.2129-20G>C | |
| ENST00000674994.1:c.2845-20G>C | ENSP00000502442.1:n.2845-20G>C | |
| ENST00000675207.1:c.2975-20G>C | ENSP00000502644.1:n.2975-20G>C | |
| ENST00000675329.1:c.2855-20G>C | ENSP00000502287.1:n.2855-20G>C | |
| ENST00000675481.1:c.2879-20G>C | ENSP00000502723.1:n.2879-20G>C | |
| ENST00000675583.1:c.2808-20G>C | ENSP00000501740.1:n.2808-20G>C | |
| ENST00000675603.1:n.6-20G>C | ||
| ENST00000675638.1:c.2879-20G>C | ENSP00000501647.1:n.2879-20G>C | |
| ENST00000675724.1:c.2817-20G>C | ENSP00000502576.1:n.2817-20G>C | |
| ENST00000675771.1:c.2142-20G>C | ENSP00000502104.1:n.2142-20G>C | |
| ENST00000675797.1:c.2284-20G>C | ENSP00000502023.1:n.2284-20G>C | |
| ENST00000675809.1:c.2934-20G>C | ENSP00000502587.1:n.2934-20G>C | |
| ENST00000675930.1:c.2879-20G>C | ENSP00000502456.1:n.2879-20G>C | |
| ENST00000675980.1:c.2897-20G>C | ENSP00000502520.1:n.2897-20G>C | |
| ENST00000676016.1:c.2778-20G>C | ENSP00000502412.1:n.2778-20G>C | |
| ENST00000676366.1:c.2879-20G>C | ENSP00000501605.1:n.2879-20G>C | |
| ENST00000252527.8:c.1283-20G>C | ENSP00000252527.8:n.1283-20G>C | |
| ENST00000330634.11:c.2879-20G>C | ENSP00000376406.3:n.2879-20G>C | |
| ENST00000392634.8:c.2879-20G>C | ENSP00000376410.4:n.2879-20G>C | |
| ENST00000477497.1:n.384-20G>C | ||
| ENST00000617571.4:c.-1255-20G>C | ENSP00000483829.1:n.-1255-20G>C | |
| NM_001031714.3:c.2879-20G>C | NP_001026884.3:n.2879-20G>C | |
| NM_022489.3:c.2879-20G>C | NP_071934.3:n.2879-20G>C | |
| XM_005268004.3:c.2975-20G>C | XP_005268061.1:n.2975-20G>C | |
| XM_005268005.3:c.2975-20G>C | XP_005268062.1:n.2975-20G>C | |
| XR_943507.1:n.3104-20G>C | ||
| XM_005268004.4:c.2975-20G>C | XP_005268061.1:n.2975-20G>C | |
| XM_005268005.4:c.2975-20G>C | XP_005268062.1:n.2975-20G>C | |
| XM_017021595.1:c.2975-20G>C | XP_016877084.1:n.2975-20G>C | |
| NM_001031714.4:c.2879-20G>C | NP_001026884.3:n.2879-20G>C | |
| NM_022489.4:c.2879-20G>C MANE Select | NP_071934.3:n.2879-20G>C |