Linked Data
dbSNP Id:
rs1317898472
gnomAD v4:
10-26697804-G-C
MyVariant Identifiers:
chr10:g.26986733G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26697804G>C , CM000672.2:g.26697804G>C | GRCh38 |
| NC_000010.10:g.26986733G>C , CM000672.1:g.26986733G>C | GRCh37 |
| NC_000010.9:g.27026739G>C | NCBI36 |
| NG_008972.1:g.5139G>C | |
| NG_008972.2:g.5139G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.93G>C MANE Select | ENSP00000365388.5:p.Pro31= | |
| ENST00000376215.9:c.93G>C | ENSP00000365388.5:p.Pro31= | |
| NM_014317.3:c.93G>C | NP_055132.2:p.Pro31= | |
| XR_428636.2:n.381G>C | ||
| XR_930486.1:n.381G>C | ||
| NM_001321978.1:c.93G>C | NP_001308907.1:p.Pro31= | |
| NM_001321979.1:c.-501G>C | NP_001308908.1:n.-501G>C | |
| NM_014317.4:c.93G>C | NP_055132.2:p.Pro31= | |
| XM_024447922.1:c.93G>C | XP_024303690.1:p.Pro31= | |
| XR_428636.4:n.381G>C | ||
| NM_014317.5:c.93G>C MANE Select | NP_055132.2:p.Pro31= | |
| NM_001321978.2:c.93G>C | NP_001308907.1:p.Pro31= | |
| NM_001321979.2:c.-501G>C | NP_001308908.1:n.-501G>C |