Linked Data
dbSNP Id:
rs7359257
gnomAD v2:
15-67702907-A-C
gnomAD v3:
15-67410569-A-C
gnomAD v4:
15-67410569-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67410569A>C , CM000677.2:g.67410569A>C | GRCh38 |
| NC_000015.9:g.67702907A>C , CM000677.1:g.67702907A>C | GRCh37 |
| NC_000015.8:g.65489961A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335894.9:c.2098-6362A>C (IQCH) MANE Select | ENSP00000336861.4:n.2098-6362A>C | |
| ENST00000335894.8:c.2098-6362A>C (IQCH) | ENSP00000336861.4:n.2098-6362A>C | |
| ENST00000358767.7:c.1081-6362A>C (IQCH) | ENSP00000351617.4:n.1081-6362A>C | |
| ENST00000514049.5:c.*1414-6362A>C (IQCH) | ENSP00000421223.1:n.*1414-6362A>C | |
| ENST00000546225.5:c.1069-6362A>C (IQCH) | ENSP00000444118.1:n.1069-6362A>C | |
| NM_001031715.2:c.2098-6362A>C (IQCH) | NP_001026885.1:n.2098-6362A>C | |
| NM_001284347.1:c.1069-6362A>C (IQCH) | NP_001271276.1:n.1069-6362A>C | |
| NM_001284348.1:c.1081-6362A>C (IQCH) | NP_001271277.1:n.1081-6362A>C | |
| NR_040051.1:n.1096-2094T>G (IQCH-AS1) | ||
| NR_040052.1:n.892-2094T>G (IQCH-AS1) | ||
| XM_011521907.1:c.2215-6362A>C (IQCH) | XP_011520209.1:n.2215-6362A>C | |
| XM_011521908.1:c.2074-6362A>C (IQCH) | XP_011520210.1:n.2074-6362A>C | |
| XM_011521909.1:c.2215-6362A>C (IQCH) | XP_011520211.1:n.2215-6362A>C | |
| XM_011521910.1:c.2215-6362A>C (IQCH) | XP_011520212.1:n.2215-6362A>C | |
| XM_011521911.1:c.2002-6362A>C (IQCH) | XP_011520213.1:n.2002-6362A>C | |
| XM_011521912.1:c.1942-6362A>C (IQCH) | XP_011520214.1:n.1942-6362A>C | |
| XM_011521913.1:c.2215-6362A>C (IQCH) | XP_011520215.1:n.2215-6362A>C | |
| XM_011521914.1:c.1786-6362A>C (IQCH) | XP_011520216.1:n.1786-6362A>C | |
| XM_011521915.1:c.1750-6362A>C (IQCH) | XP_011520217.1:n.1750-6362A>C | |
| XM_011521916.1:c.1627-6362A>C (IQCH) | XP_011520218.1:n.1627-6362A>C | |
| XM_011521917.1:c.1594-6362A>C (IQCH) | XP_011520219.1:n.1594-6362A>C | |
| XM_011521918.1:c.1579-6362A>C (IQCH) | XP_011520220.1:n.1579-6362A>C | |
| XM_011521919.1:c.1579-6362A>C (IQCH) | XP_011520221.1:n.1579-6362A>C | |
| XM_011521920.1:c.1354-6362A>C (IQCH) | XP_011520222.1:n.1354-6362A>C | |
| XM_011521921.1:c.1342-6362A>C (IQCH) | XP_011520223.1:n.1342-6362A>C | |
| XR_931884.1:n.2334-6362A>C (IQCH) | ||
| NM_001322470.1:c.1306-6362A>C (IQCH) | NP_001309399.1:n.1306-6362A>C | |
| NM_001322471.1:c.1069-6362A>C (IQCH) | NP_001309400.1:n.1069-6362A>C | |
| NM_001322472.1:c.877-6362A>C (IQCH) | NP_001309401.1:n.877-6362A>C | |
| NM_001322473.1:c.1306-6362A>C (IQCH) | NP_001309402.1:n.1306-6362A>C | |
| NM_001322474.1:c.1114-6362A>C (IQCH) | NP_001309403.1:n.1114-6362A>C | |
| NM_001322475.1:c.1306-6362A>C (IQCH) | NP_001309404.1:n.1306-6362A>C | |
| NR_147832.1:n.1588-6362A>C (IQCH) | ||
| XM_011521907.2:c.2215-6362A>C (IQCH) | XP_011520209.1:n.2215-6362A>C | |
| XM_011521908.2:c.2074-6362A>C (IQCH) | XP_011520210.1:n.2074-6362A>C | |
| XM_011521911.2:c.2002-6362A>C (IQCH) | XP_011520213.1:n.2002-6362A>C | |
| XM_011521912.2:c.1942-6362A>C (IQCH) | XP_011520214.1:n.1942-6362A>C | |
| XM_011521913.2:c.2215-6362A>C (IQCH) | XP_011520215.1:n.2215-6362A>C | |
| XM_011521914.2:c.1786-6362A>C (IQCH) | XP_011520216.1:n.1786-6362A>C | |
| XM_011521915.2:c.1750-6362A>C (IQCH) | XP_011520217.1:n.1750-6362A>C | |
| XM_011521918.2:c.1579-6362A>C (IQCH) | XP_011520220.1:n.1579-6362A>C | |
| XM_017022491.1:c.2215-6362A>C (IQCH) | XP_016877980.1:n.2215-6362A>C | |
| XM_017022492.2:c.2215-6362A>C (IQCH) | XP_016877981.1:n.2215-6362A>C | |
| XM_017022494.2:c.2215-6362A>C (IQCH) | XP_016877983.1:n.2215-6362A>C | |
| XM_017022495.1:c.1942-6362A>C (IQCH) | XP_016877984.1:n.1942-6362A>C | |
| XM_017022497.1:c.1942-6362A>C (IQCH) | XP_016877986.1:n.1942-6362A>C | |
| XM_017022498.1:c.1750-6362A>C (IQCH) | XP_016877987.1:n.1750-6362A>C | |
| XM_017022499.1:c.1942-6362A>C (IQCH) | XP_016877988.1:n.1942-6362A>C | |
| XM_017022500.1:c.1579-6362A>C (IQCH) | XP_016877989.1:n.1579-6362A>C | |
| XM_017022501.1:c.1114-6362A>C (IQCH) | XP_016877990.1:n.1114-6362A>C | |
| XM_017022503.1:c.877-6362A>C (IQCH) | XP_016877992.1:n.877-6362A>C | |
| XM_017022504.2:c.1069-6362A>C (IQCH) | XP_016877993.1:n.1069-6362A>C | |
| XM_024450020.1:c.2176-6362A>C (IQCH) | XP_024305788.1:n.2176-6362A>C | |
| XM_024450021.1:c.2215-6362A>C (IQCH) | XP_024305789.1:n.2215-6362A>C | |
| XM_024450022.1:c.1627-6362A>C (IQCH) | XP_024305790.1:n.1627-6362A>C | |
| XM_024450023.1:c.1594-6362A>C (IQCH) | XP_024305791.1:n.1594-6362A>C | |
| XM_024450024.1:c.1579-6362A>C (IQCH) | XP_024305792.1:n.1579-6362A>C | |
| XM_024450025.1:c.1354-6362A>C (IQCH) | XP_024305793.1:n.1354-6362A>C | |
| XM_024450026.1:c.1342-6362A>C (IQCH) | XP_024305794.1:n.1342-6362A>C | |
| XR_931884.2:n.2337-6362A>C (IQCH) | ||
| NM_001031715.3:c.2098-6362A>C (IQCH) MANE Select | NP_001026885.2:n.2098-6362A>C | |
| NM_001284347.2:c.1069-6362A>C (IQCH) | NP_001271276.2:n.1069-6362A>C | |
| NM_001284348.2:c.1081-6362A>C (IQCH) | NP_001271277.2:n.1081-6362A>C | |
| NM_001322470.2:c.1306-6362A>C (IQCH) | NP_001309399.1:n.1306-6362A>C | |
| NM_001322471.2:c.1069-6362A>C (IQCH) | NP_001309400.1:n.1069-6362A>C | |
| NM_001322472.2:c.877-6362A>C (IQCH) | NP_001309401.1:n.877-6362A>C | |
| NM_001322473.2:c.1306-6362A>C (IQCH) | NP_001309402.1:n.1306-6362A>C | |
| NM_001322474.2:c.1114-6362A>C (IQCH) | NP_001309403.1:n.1114-6362A>C | |
| NM_001322475.2:c.1306-6362A>C (IQCH) | NP_001309404.2:n.1306-6362A>C | |
| NR_147832.2:n.1602-6362A>C (IQCH) |