Linked Data
ClinVar Variation Id:
2862457
ClinVar RCV Id:
RCV003699840
dbSNP Id:
rs1470389137
gnomAD v2:
2-215876248-T-C
gnomAD v4:
2-215011524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011524T>C , CM000664.2:g.215011524T>C | GRCh38 |
| NC_000002.11:g.215876248T>C , CM000664.1:g.215876248T>C | GRCh37 |
| NC_000002.10:g.215584493T>C | NCBI36 |
| NG_007074.1:g.131904A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.2247A>G MANE Select | ENSP00000272895.7:p.Pro749= | |
| ENST00000272895.11:c.2247A>G | ENSP00000272895.7:p.Pro749= | |
| ENST00000389661.4:c.1293A>G | ENSP00000374312.4:p.Pro431= | |
| NM_015657.3:c.1293A>G | NP_056472.2:p.Pro431= | |
| NM_173076.2:c.2247A>G | NP_775099.2:p.Pro749= | |
| NR_103740.1:n.2491A>G | ||
| XM_011510951.1:c.2247A>G | XP_011509253.1:p.Pro749= | |
| XM_011510952.1:c.2247A>G | XP_011509254.1:p.Pro749= | |
| XM_011510951.2:c.2247A>G | XP_011509253.1:p.Pro749= | |
| NM_173076.3:c.2247A>G MANE Select | NP_775099.2:p.Pro749= | |
| NR_103740.2:n.2689A>G | ||
| NM_015657.4:c.1293A>G | NP_056472.2:p.Pro431= |