Linked Data
dbSNP Id:
rs1467495458
gnomAD v4:
1-222658954-T-C
MyVariant Identifiers:
chr1:g.222832296T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.222658954T>C , CM000663.2:g.222658954T>C | GRCh38 |
| NC_000001.10:g.222832296T>C , CM000663.1:g.222832296T>C | GRCh37 |
| NC_000001.9:g.220898919T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344922.10:c.4709+131T>C MANE Select | ENSP00000340900.5:n.4709+131T>C | |
| ENST00000340535.11:c.1343+131T>C | ENSP00000345866.7:n.1343+131T>C | |
| ENST00000344507.1:c.1475-6645T>C | ENSP00000341348.1:n.1475-6645T>C | |
| ENST00000344922.9:c.4709+131T>C | ENSP00000340900.5:n.4709+131T>C | |
| ENST00000476400.1:n.182+131T>C | ||
| NM_001300867.1:c.1343+131T>C | NP_001287796.1:n.1343+131T>C | |
| NM_198551.3:c.4709+131T>C | NP_940953.2:n.4709+131T>C | |
| XM_005273121.3:c.4709+131T>C | XP_005273178.1:n.4709+131T>C | |
| XM_006711304.2:c.4532+131T>C | XP_006711367.1:n.4532+131T>C | |
| NM_001324062.1:c.4709+131T>C | NP_001310991.1:n.4709+131T>C | |
| NM_001324063.1:c.4532+131T>C | NP_001310992.1:n.4532+131T>C | |
| NM_001324064.1:c.4217+131T>C | NP_001310993.1:n.4217+131T>C | |
| NM_001324065.1:c.1343+131T>C | NP_001310994.1:n.1343+131T>C | |
| XM_006711304.4:c.4532+131T>C | XP_006711367.3:n.4532+131T>C | |
| XM_017001243.2:c.4217+131T>C | XP_016856732.1:n.4217+131T>C | |
| NM_198551.4:c.4709+131T>C MANE Select | NP_940953.2:n.4709+131T>C | |
| NM_001300867.2:c.1343+131T>C | NP_001287796.1:n.1343+131T>C | |
| NM_001324062.2:c.4709+131T>C | NP_001310991.1:n.4709+131T>C | |
| NM_001324063.2:c.4532+131T>C | NP_001310992.1:n.4532+131T>C | |
| NM_001324064.2:c.4217+131T>C | NP_001310993.1:n.4217+131T>C | |
| NM_001324065.2:c.1343+131T>C | NP_001310994.1:n.1343+131T>C |