Linked Data
dbSNP Id:
rs1332572717
gnomAD v3:
6-112109664-T-C
gnomAD v4:
6-112109664-T-C
MyVariant Identifiers:
chr6:g.112109664T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112109664T>C , CM000668.2:g.112109664T>C | GRCh38 |
| NC_000006.11:g.112430867T>C , CM000668.1:g.112430867T>C | GRCh37 |
| NC_000006.10:g.112537560T>C | NCBI36 |
| NG_008209.1:g.149962A>G , LRG_433:g.149962A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.5327-82A>G MANE Select | ENSP00000230538.7:n.5327-82A>G | |
| ENST00000389463.9:c.5306-82A>G | ENSP00000374114.4:n.5306-82A>G | |
| ENST00000651529.1:c.1345-82A>G | ||
| ENST00000651860.1:c.3050-82A>G | ENSP00000498842.1:n.3050-82A>G | |
| ENST00000230538.11:c.5327-82A>G | ENSP00000230538.7:n.5327-82A>G | |
| ENST00000389463.8:c.5306-82A>G | ENSP00000374114.4:n.5306-82A>G | |
| ENST00000424408.6:c.5306-82A>G | ENSP00000416470.2:n.5306-82A>G | |
| ENST00000522006.5:c.5306-82A>G | ENSP00000429488.1:n.5306-82A>G | |
| NM_001105206.2:c.5327-82A>G | NP_001098676.2:n.5327-82A>G | |
| NM_001105207.2:c.5306-82A>G | NP_001098677.2:n.5306-82A>G | |
| NM_002290.4:c.5306-82A>G | NP_002281.3:n.5306-82A>G | |
| XM_005266983.3:c.5327-82A>G | XP_005267040.2:n.5327-82A>G | |
| XM_005266984.3:c.5327-82A>G | XP_005267041.2:n.5327-82A>G | |
| XM_005266983.4:c.5327-82A>G | XP_005267040.2:n.5327-82A>G | |
| XM_005266984.4:c.5327-82A>G | XP_005267041.2:n.5327-82A>G | |
| XM_017010854.2:c.5306-82A>G | XP_016866343.1:n.5306-82A>G | |
| XR_001743406.2:n.5464-82A>G | ||
| XR_001743407.2:n.5443-82A>G | ||
| NM_001105206.3:c.5327-82A>G MANE Select | NP_001098676.2:n.5327-82A>G | |
| NM_001105207.3:c.5306-82A>G | NP_001098677.2:n.5306-82A>G | |
| NM_002290.5:c.5306-82A>G | NP_002281.3:n.5306-82A>G |