Linked Data
dbSNP Id:
rs7111546
gnomAD v2:
11-22829757-C-T
gnomAD v3:
11-22808211-C-T
gnomAD v4:
11-22808211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22808211C>T , CM000673.2:g.22808211C>T | GRCh38 |
| NC_000011.9:g.22829757C>T , CM000673.1:g.22829757C>T | GRCh37 |
| NC_000011.8:g.22786333C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454584.7:c.724-3587C>T MANE Select | ENSP00000401145.2:n.724-3587C>T | |
| ENST00000278187.7:c.724-3587C>T | ENSP00000278187.3:n.724-3587C>T | |
| ENST00000454584.6:c.724-3587C>T | ENSP00000401145.2:n.724-3587C>T | |
| ENST00000524701.5:c.*364-3587C>T | ENSP00000432026.1:n.*364-3587C>T | |
| NM_001143830.1:c.724-3587C>T | NP_001137302.1:n.724-3587C>T | |
| NM_005256.3:c.724-3587C>T | NP_005247.1:n.724-3587C>T | |
| NM_177553.2:c.724-3587C>T | NP_808221.1:n.724-3587C>T | |
| XM_011519971.1:c.778-3587C>T | XP_011518273.1:n.778-3587C>T | |
| XM_011519972.1:c.778-3587C>T | XP_011518274.1:n.778-3587C>T | |
| XM_011519973.1:c.778-3587C>T | XP_011518275.1:n.778-3587C>T | |
| XM_011519978.1:c.*20-3587C>T | XP_011518280.1:n.*20-3587C>T | |
| NM_001351224.1:c.*20-3587C>T | NP_001338153.1:n.*20-3587C>T | |
| NR_147085.1:n.1168-3587C>T | ||
| XM_011519971.3:c.778-3587C>T | XP_011518273.1:n.778-3587C>T | |
| XM_011519972.3:c.778-3587C>T | XP_011518274.1:n.778-3587C>T | |
| XM_017017532.1:c.724-26696C>T | XP_016873021.1:n.724-26696C>T | |
| XR_001747829.1:n.1030-26696C>T | ||
| NM_001143830.2:c.724-3587C>T | NP_001137302.1:n.724-3587C>T | |
| NM_001351224.2:c.*20-3587C>T | NP_001338153.1:n.*20-3587C>T | |
| NM_005256.4:c.724-3587C>T | NP_005247.1:n.724-3587C>T | |
| NM_177553.3:c.724-3587C>T | NP_808221.1:n.724-3587C>T | |
| NR_147085.2:n.1436-3587C>T | ||
| NM_001143830.3:c.724-3587C>T MANE Select | NP_001137302.1:n.724-3587C>T | |
| NM_001351224.3:c.*20-3587C>T | NP_001338153.1:n.*20-3587C>T | |
| NM_001391933.1:c.778-3587C>T | NP_001378862.1:n.778-3587C>T | |
| NM_001391934.1:c.724-3587C>T | NP_001378863.1:n.724-3587C>T | |
| NM_001391935.1:c.724-3587C>T | NP_001378864.1:n.724-3587C>T | |
| NM_001391936.1:c.724-3587C>T | NP_001378865.1:n.724-3587C>T | |
| NM_001391937.1:c.724-3587C>T | NP_001378866.1:n.724-3587C>T | |
| NM_005256.5:c.724-3587C>T | NP_005247.1:n.724-3587C>T | |
| NM_177553.4:c.724-3587C>T | NP_808221.1:n.724-3587C>T |