Linked Data
ClinVar Variation Id:
21464
ClinVar RCV Id:
RCV000020652
dbSNP Id:
rs28363581
ExAC:
1:171083398 T / C
gnomAD v2:
1-171083398-T-C
gnomAD v3:
1-171114258-T-C
gnomAD v4:
1-171114258-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171114258T>C , CM000663.2:g.171114258T>C | GRCh38 |
| NC_000001.10:g.171083398T>C , CM000663.1:g.171083398T>C | GRCh37 |
| NC_000001.9:g.169350022T>C | NCBI36 |
| NG_012690.1:g.28381T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367755.9:c.1079T>C MANE Select | ENSP00000356729.4:p.Leu360Pro | |
| ENST00000367755.8:c.1079T>C | ENSP00000356729.4:p.Leu360Pro | |
| NM_001002294.2:c.1079T>C | NP_001002294.1:p.Leu360Pro | |
| NM_006894.5:c.1079T>C | NP_008825.4:p.Leu360Pro | |
| XM_005245044.1:c.890T>C | XP_005245101.1:p.Leu297Pro | |
| XM_011509345.1:c.1019T>C | XP_011507647.1:p.Leu340Pro | |
| XM_011509346.1:c.1019T>C | XP_011507648.1:p.Leu340Pro | |
| NM_001319173.1:c.1019T>C | NP_001306102.1:p.Leu340Pro | |
| NM_001319174.1:c.890T>C | NP_001306103.1:p.Leu297Pro | |
| XM_011509345.3:c.1019T>C | XP_011507647.1:p.Leu340Pro | |
| XM_024454365.1:c.332T>C | XP_024310133.1:p.Leu111Pro | |
| NM_001002294.3:c.1079T>C MANE Select | NP_001002294.1:p.Leu360Pro | |
| NM_001319173.2:c.1019T>C | NP_001306102.1:p.Leu340Pro | |
| NM_001319174.2:c.890T>C | NP_001306103.1:p.Leu297Pro | |
| NM_006894.6:c.1079T>C | NP_008825.4:p.Leu360Pro |