Linked Data
dbSNP Id:
rs776699046
gnomAD v4:
10-8058468-G-C
MyVariant Identifiers:
chr10:g.8100431G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058468G>C , CM000672.2:g.8058468G>C | GRCh38 |
| NC_000010.10:g.8100431G>C , CM000672.1:g.8100431G>C | GRCh37 |
| NC_000010.9:g.8140437G>C | NCBI36 |
| NG_015859.1:g.8765G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.405G>C | ENSP00000341619.3:p.Pro135= | |
| ENST00000379328.9:c.405G>C MANE Select | ENSP00000368632.3:p.Pro135= | |
| ENST00000481743.2:c.405G>C | ENSP00000493486.1:p.Pro135= | |
| ENST00000346208.3:c.405G>C | ENSP00000341619.3:p.Pro135= | |
| ENST00000379328.7:c.405G>C | ENSP00000368632.3:p.Pro135= | |
| ENST00000461472.1:n.70G>C | ||
| NM_001002295.1:c.405G>C | NP_001002295.1:p.Pro135= | |
| NM_002051.2:c.405G>C | NP_002042.1:p.Pro135= | |
| XM_005252442.2:c.405G>C | XP_005252499.1:p.Pro135= | |
| XM_005252443.3:c.405G>C | XP_005252500.1:p.Pro135= | |
| XM_005252443.5:c.405G>C | XP_005252500.1:p.Pro135= | |
| NM_001002295.2:c.405G>C MANE Select | NP_001002295.1:p.Pro135= | |
| NM_002051.3:c.405G>C | NP_002042.1:p.Pro135= |