Linked Data
ClinVar Variation Id:
878857
ClinVar RCV Id:
RCV001105837
dbSNP Id:
rs1049360705
gnomAD v2:
10-54531370-A-G
gnomAD v3:
10-52771610-A-G
gnomAD v4:
10-52771610-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771610A>G , CM000672.2:g.52771610A>G | GRCh38 |
| NC_000010.10:g.54531370A>G , CM000672.1:g.54531370A>G | GRCh37 |
| NC_000010.9:g.54201376A>G | NCBI36 |
| NG_008196.1:g.5091T>C , LRG_154:g.5091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674931.1:c.26T>C MANE Select | ENSP00000502789.1:p.Leu9Pro | |
| ENST00000675947.1:c.26T>C | ENSP00000502615.1:p.Leu9Pro | |
| ENST00000373968.3:c.26T>C | ENSP00000363079.3:p.Leu9Pro | |
| NM_000242.2:c.26T>C , LRG_154t1:c.26T>C | NP_000233.1:p.Leu9Pro | |
| XM_006717861.2:c.26T>C | XP_006717924.1:p.Leu9Pro | |
| XM_011539816.1:c.26T>C | XP_011538118.1:p.Leu9Pro | |
| XM_006717861.4:c.26T>C | XP_006717924.1:p.Leu9Pro | |
| XM_011539816.3:c.26T>C | XP_011538118.1:p.Leu9Pro | |
| NM_000242.3:c.26T>C | NP_000233.1:p.Leu9Pro | |
| NM_001378373.1:c.26T>C MANE Select | NP_001365302.1:p.Leu9Pro | |
| NM_001378374.1:c.26T>C | NP_001365303.1:p.Leu9Pro |