Linked Data
ClinVar Variation Id:
1376565
ClinVar RCV Id:
RCV001885989
dbSNP Id:
rs548343899
ExAC:
2:25965232 G / C
gnomAD v2:
2-25965232-G-C
gnomAD v3:
2-25742363-G-C
gnomAD v4:
2-25742363-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742363G>C , CM000664.2:g.25742363G>C | GRCh38 |
| NC_000002.11:g.25965232G>C , CM000664.1:g.25965232G>C | GRCh37 |
| NC_000002.10:g.25818736G>C | NCBI36 |
| NG_052995.1:g.141154C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3971C>G | ENSP00000337250.5:p.Pro1324Arg | |
| ENST00000435504.9:c.3974C>G MANE Select | ENSP00000391447.3:p.Pro1325Arg | |
| ENST00000336112.8:c.3890C>G | ENSP00000337250.4:p.Pro1297Arg | |
| ENST00000404843.5:c.2423C>G | ENSP00000383920.1:p.Pro808Arg | |
| ENST00000435504.8:c.3974C>G | ENSP00000391447.3:p.Pro1325Arg | |
| NM_018263.4:c.3974C>G | NP_060733.4:p.Pro1325Arg | |
| XM_006712039.2:c.3608C>G | XP_006712102.1:p.Pro1203Arg | |
| XM_006712040.1:c.3194C>G | XP_006712103.1:p.Pro1065Arg | |
| XM_011532950.1:c.3971C>G | XP_011531252.1:p.Pro1324Arg | |
| XM_011532951.1:c.3800C>G | XP_011531253.1:p.Pro1267Arg | |
| NM_018263.5:c.3974C>G | NP_060733.4:p.Pro1325Arg | |
| XM_006712039.3:c.3608C>G | XP_006712102.1:p.Pro1203Arg | |
| XM_006712040.2:c.3194C>G | XP_006712103.1:p.Pro1065Arg | |
| XM_011532950.3:c.3971C>G | XP_011531252.1:p.Pro1324Arg | |
| XM_011532951.2:c.3800C>G | XP_011531253.1:p.Pro1267Arg | |
| XM_017004430.1:c.3194C>G | XP_016859919.1:p.Pro1065Arg | |
| XM_024452974.1:c.4154C>G | XP_024308742.1:p.Pro1385Arg | |
| NM_001369346.1:c.3800C>G | NP_001356275.1:p.Pro1267Arg | |
| NM_001369347.1:c.3194C>G | NP_001356276.1:p.Pro1065Arg | |
| NM_018263.6:c.3974C>G MANE Select | NP_060733.4:p.Pro1325Arg |