Linked Data
dbSNP Id:
rs1257283355
gnomAD v2:
6-31590904-A-C
gnomAD v3:
6-31623127-A-C
gnomAD v4:
6-31623127-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31623127A>C , CM000668.2:g.31623127A>C | GRCh38 |
| NC_000006.11:g.31590904A>C , CM000668.1:g.31590904A>C | GRCh37 |
| NC_000006.10:g.31698883A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376033.3:c.112+226A>C (PRRC2A) MANE Select | ENSP00000365201.2:n.112+226A>C | |
| ENST00000376007.8:c.112+226A>C (PRRC2A) | ENSP00000365175.4:n.112+226A>C | |
| ENST00000376033.2:c.112+226A>C (PRRC2A) | ENSP00000365201.2:n.112+226A>C | |
| ENST00000469577.5:n.136-1134A>C (PRRC2A) | ||
| NM_004638.3:c.112+226A>C (PRRC2A) | NP_004629.3:n.112+226A>C | |
| NM_080686.2:c.112+226A>C (PRRC2A) | NP_542417.2:n.112+226A>C | |
| NR_002971.1:n.49A>C (SNORA38) | ||
| XM_011514890.1:c.112+226A>C (PRRC2A) | XP_011513192.1:n.112+226A>C | |
| XM_017011274.1:c.112+226A>C (PRRC2A) | XP_016866763.1:n.112+226A>C | |
| NM_004638.4:c.112+226A>C (PRRC2A) MANE Select | NP_004629.3:n.112+226A>C | |
| NM_080686.3:c.112+226A>C (PRRC2A) | NP_542417.2:n.112+226A>C |