Linked Data
ClinVar Variation Id:
2080201
ClinVar RCV Id:
RCV002999112
dbSNP Id:
rs374859010
ExAC:
5:32712154 G / C
gnomAD v2:
5-32712154-G-C
gnomAD v3:
5-32712048-G-C
gnomAD v4:
5-32712048-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32712048G>C , CM000667.2:g.32712048G>C | GRCh38 |
| NC_000005.9:g.32712154G>C , CM000667.1:g.32712154G>C | GRCh37 |
| NC_000005.8:g.32747911G>C | NCBI36 |
| NG_028162.1:g.6412G>C | |
| NG_028162.2:g.27973G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265074.13:c.272G>C MANE Select | ENSP00000265074.8:p.Arg91Pro | |
| ENST00000265074.12:c.272G>C | ENSP00000265074.8:p.Arg91Pro | |
| ENST00000326958.5:c.121+1265G>C | ENSP00000318340.2:n.121+1265G>C | |
| ENST00000415167.2:c.272G>C | ENSP00000398028.2:p.Arg91Pro | |
| ENST00000434067.6:c.121+1265G>C | ENSP00000388408.2:n.121+1265G>C | |
| ENST00000506712.1:n.130+1265G>C | ||
| ENST00000509104.5:c.101-12650G>C | ENSP00000425325.1:n.101-12650G>C | |
| NM_000908.3:c.272G>C | NP_000899.1:p.Arg91Pro | |
| NM_001204375.1:c.272G>C | NP_001191304.1:p.Arg91Pro | |
| NM_001204376.1:c.121+1265G>C | NP_001191305.1:n.121+1265G>C | |
| XM_005248309.1:c.121+1265G>C | XP_005248366.1:n.121+1265G>C | |
| XM_005248310.2:c.272G>C | XP_005248367.1:p.Arg91Pro | |
| XM_011514047.1:c.101-12650G>C | XP_011512349.1:n.101-12650G>C | |
| XM_011514048.1:c.50-12650G>C | XP_011512350.1:n.50-12650G>C | |
| XM_011514049.1:c.-8-12650G>C | XP_011512351.1:n.-8-12650G>C | |
| XM_011514050.1:c.272G>C | XP_011512352.1:p.Arg91Pro | |
| NM_001363652.1:c.121+1265G>C | NP_001350581.1:n.121+1265G>C | |
| NM_001364458.1:c.50-12650G>C | NP_001351387.1:n.50-12650G>C | |
| NM_001364460.1:c.121+1265G>C | NP_001351389.1:n.121+1265G>C | |
| XM_011514047.2:c.101-12650G>C | XP_011512349.1:n.101-12650G>C | |
| XM_011514049.3:c.-8-12650G>C | XP_011512351.1:n.-8-12650G>C | |
| XM_011514050.2:c.272G>C | XP_011512352.1:p.Arg91Pro | |
| XM_017009492.2:c.272G>C | XP_016864981.1:p.Arg91Pro | |
| NM_001204375.2:c.272G>C MANE Select | NP_001191304.1:p.Arg91Pro | |
| NM_000908.4:c.272G>C | NP_000899.1:p.Arg91Pro | |
| NM_001363652.2:c.121+1265G>C | NP_001350581.1:n.121+1265G>C | |
| NM_001364458.2:c.50-12650G>C | NP_001351387.1:n.50-12650G>C | |
| NM_001364460.2:c.121+1265G>C | NP_001351389.1:n.121+1265G>C | |
| NM_001204376.2:c.121+1265G>C | NP_001191305.1:n.121+1265G>C |