Linked Data
ClinVar Variation Id:
2937587
ClinVar RCV Id:
RCV003794217
dbSNP Id:
rs1342803626
gnomAD v2:
11-68701255-T-C
gnomAD v4:
11-68933787-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68933787T>C , CM000673.2:g.68933787T>C | GRCh38 |
| NC_000011.9:g.68701255T>C , CM000673.1:g.68701255T>C | GRCh37 |
| NC_000011.8:g.68457831T>C | NCBI36 |
| NG_007976.1:g.34937T>C , LRG_250:g.34937T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.1419-8T>C MANE Select | ENSP00000255078.4:n.1419-8T>C | |
| ENST00000674955.1:c.*136-8T>C | ENSP00000502463.1:n.*136-8T>C | |
| ENST00000675118.1:c.907-8T>C | ||
| ENST00000675205.1:n.183+306T>C | ||
| ENST00000675615.1:c.1419-8T>C | ENSP00000502413.1:n.1419-8T>C | |
| ENST00000675648.1:n.794-8T>C | ||
| ENST00000675997.1:n.113-677T>C | ||
| ENST00000676173.1:n.2164-8T>C | ||
| ENST00000676228.1:c.*742-8T>C | ENSP00000502375.1:n.*742-8T>C | |
| ENST00000255078.7:c.1419-8T>C | ENSP00000255078.3:n.1419-8T>C | |
| ENST00000537458.5:n.536-8T>C | ||
| ENST00000539064.5:n.1178-8T>C | ||
| ENST00000541229.5:n.106T>C | ||
| ENST00000543739.5:n.536-8T>C | ||
| NM_002180.2:c.1419-8T>C , LRG_250t1:c.1419-8T>C | NP_002171.2:n.1419-8T>C | |
| XM_005273974.2:c.408-8T>C | XP_005274031.1:n.408-8T>C | |
| XM_005273975.2:c.291-8T>C | XP_005274032.1:n.291-8T>C | |
| XM_011544994.1:c.186-8T>C | XP_011543296.1:n.186-8T>C | |
| XR_949903.1:n.1521-8T>C | ||
| XM_005273975.3:c.291-8T>C | XP_005274032.1:n.291-8T>C | |
| XM_017017669.2:c.408-8T>C | XP_016873158.1:n.408-8T>C | |
| XM_017017670.2:c.408-8T>C | XP_016873159.1:n.408-8T>C | |
| XM_017017671.2:c.1419-8T>C | XP_016873160.1:n.1419-8T>C | |
| XR_949903.3:n.1517-8T>C | ||
| NM_002180.3:c.1419-8T>C MANE Select | NP_002171.2:n.1419-8T>C |