Linked Data
ClinVar Variation Id:
1947052
ClinVar RCV Id:
RCV002685399
dbSNP Id:
rs777952773
gnomAD v2:
6-70980037-G-C
gnomAD v3:
6-70270334-G-C
gnomAD v4:
6-70270334-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70270334G>C , CM000668.2:g.70270334G>C | GRCh38 |
| NC_000006.11:g.70980037G>C , CM000668.1:g.70980037G>C | GRCh37 |
| NC_000006.10:g.71036758G>C | NCBI36 |
| NG_011654.1:g.37750C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683980.2:c.448C>G | ENSP00000506990.1:p.Pro150Ala | |
| ENST00000683602.1:n.1914C>G | ||
| ENST00000683758.1:c.448C>G | ENSP00000508147.1:p.Pro150Ala | |
| ENST00000683980.1:c.448C>G | ENSP00000506990.1:p.Pro150Ala | |
| ENST00000684176.1:n.519C>G | ||
| ENST00000320755.12:c.448C>G | ENSP00000315252.7:p.Pro150Ala | |
| ENST00000357250.11:c.1177C>G MANE Select | ENSP00000349790.6:p.Pro393Ala | |
| ENST00000644493.1:c.*214C>G | ENSP00000495638.1:n.*214C>G | |
| ENST00000320755.11:c.448C>G | ENSP00000315252.7:p.Pro150Ala | |
| ENST00000357250.10:c.1177C>G | ENSP00000349790.6:p.Pro393Ala | |
| ENST00000489611.5:n.290-669C>G | ||
| NM_001851.4:c.1177C>G | NP_001842.3:p.Pro393Ala | |
| NM_078485.3:c.448C>G | NP_511040.2:p.Pro150Ala | |
| XM_011535429.1:c.1177C>G | XP_011533731.1:p.Pro393Ala | |
| XM_011535430.1:c.448C>G | XP_011533732.1:p.Pro150Ala | |
| XM_011535429.3:c.1177C>G | XP_011533731.1:p.Pro393Ala | |
| XM_011535430.3:c.448C>G | XP_011533732.1:p.Pro150Ala | |
| XM_017010246.2:c.628C>G | XP_016865735.1:p.Pro210Ala | |
| XM_017010247.2:c.-105C>G | XP_016865736.1:n.-105C>G | |
| NM_001377289.1:c.448C>G | NP_001364218.1:p.Pro150Ala | |
| NM_001377290.1:c.448C>G | NP_001364219.1:p.Pro150Ala | |
| NM_001851.5:c.1177C>G | NP_001842.3:p.Pro393Ala | |
| NM_078485.4:c.448C>G | NP_511040.2:p.Pro150Ala | |
| NR_165185.1:n.698C>G | ||
| NM_001851.6:c.1177C>G MANE Select | NP_001842.3:p.Pro393Ala |