Linked Data
ClinVar Variation Id:
2632000
ClinVar RCV Id:
RCV003405966
dbSNP Id:
rs373121133
ExAC:
10:101605433 T / C
gnomAD v2:
10-101605433-T-C
gnomAD v3:
10-99845676-T-C
gnomAD v4:
10-99845676-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99845676T>C , CM000672.2:g.99845676T>C | GRCh38 |
| NC_000010.10:g.101605433T>C , CM000672.1:g.101605433T>C | GRCh37 |
| NC_000010.9:g.101595423T>C | NCBI36 |
| NG_011798.1:g.67971T>C | |
| NG_011798.2:g.68079T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.4040T>C MANE Select | ENSP00000497274.1:p.Leu1347Pro | |
| ENST00000649459.1:n.388T>C | ||
| ENST00000370449.8:c.4040T>C | ENSP00000359478.4:p.Leu1347Pro | |
| NM_000392.4:c.4040T>C | NP_000383.1:p.Leu1347Pro | |
| XM_006717630.2:c.3344T>C | XP_006717693.1:p.Leu1115Pro | |
| XR_945604.1:n.4177-7T>C | ||
| XR_945605.1:n.4104T>C | ||
| NM_000392.5:c.4040T>C MANE Select | NP_000383.2:p.Leu1347Pro | |
| XM_006717630.3:c.3344T>C | XP_006717693.1:p.Leu1115Pro | |
| XR_945604.3:n.4231-7T>C | ||
| XR_945605.3:n.4156T>C |