Linked Data
ClinVar Variation Id:
329998
ClinVar RCV Id:
RCV000370362
dbSNP Id:
rs777108086
ExAC:
19:54297337 C / G
gnomAD v2:
19-54297337-C-G
gnomAD v4:
19-53794083-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53794083C>G , CM000681.2:g.53794083C>G | GRCh38 |
| NC_000019.9:g.54297337C>G , CM000681.1:g.54297337C>G | GRCh37 |
| NC_000019.8:g.58989149C>G | NCBI36 |
| NG_008651.1:g.35312G>C | |
| NG_008651.2:g.35312G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.3155G>C | ENSP00000375653.1:p.Arg1052Pro | |
| ENST00000324134.11:c.3152G>C MANE Select | ENSP00000319377.6:p.Arg1051Pro | |
| ENST00000391773.6:c.3155G>C | ENSP00000375653.1:p.Arg1052Pro | |
| ENST00000324134.10:c.3152G>C | ENSP00000319377.6:p.Arg1051Pro | |
| ENST00000345770.9:c.2987G>C | ENSP00000341428.5:p.Arg996Pro | |
| ENST00000391772.1:c.2645G>C | ENSP00000375652.1:p.Arg882Pro | |
| ENST00000391773.5:c.3155G>C | ENSP00000375653.1:p.Arg1052Pro | |
| ENST00000391775.7:c.2981G>C | ENSP00000375655.3:p.Arg994Pro | |
| ENST00000492915.1:n.2139G>C | ||
| NM_001277126.1:c.3155G>C | NP_001264055.1:p.Arg1052Pro | |
| NM_001277129.1:c.2981G>C | NP_001264058.1:p.Arg994Pro | |
| NM_144687.3:c.3152G>C | NP_653288.1:p.Arg1051Pro | |
| XM_011527478.1:c.2987G>C | XP_011525780.1:p.Arg996Pro | |
| XM_011527479.1:c.2984G>C | XP_011525781.1:p.Arg995Pro | |
| XM_011527480.1:c.2984G>C | XP_011525782.1:p.Arg995Pro | |
| XM_011527482.1:c.2813G>C | XP_011525784.1:p.Arg938Pro | |
| XM_011527483.1:c.2639G>C | XP_011525785.1:p.Arg880Pro | |
| XM_017027460.1:c.3152G>C | XP_016882949.1:p.Arg1051Pro | |
| XM_017027461.1:c.2984G>C | XP_016882950.1:p.Arg995Pro | |
| XM_017027462.1:c.2981G>C | XP_016882951.1:p.Arg994Pro | |
| XM_017027463.1:c.2738G>C | XP_016882952.1:p.Arg913Pro | |
| XM_017027464.1:c.2738G>C | XP_016882953.1:p.Arg913Pro | |
| XM_017027465.1:c.2738G>C | XP_016882954.1:p.Arg913Pro | |
| XM_017027466.1:c.2738G>C | XP_016882955.1:p.Arg913Pro | |
| XM_017027467.1:c.2738G>C | XP_016882956.1:p.Arg913Pro | |
| NM_001277126.2:c.3155G>C | NP_001264055.1:p.Arg1052Pro | |
| NM_144687.4:c.3152G>C MANE Select | NP_653288.1:p.Arg1051Pro |