Linked Data
dbSNP Id:
rs11810217
gnomAD v2:
1-93148377-C-T
gnomAD v3:
1-92682820-C-T
gnomAD v4:
1-92682820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92682820C>T , CM000663.2:g.92682820C>T | GRCh38 |
| NC_000001.10:g.93148377C>T , CM000663.1:g.93148377C>T | GRCh37 |
| NC_000001.9:g.92920965C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000540033.3:c.1230-5602G>A | ENSP00000440826.2:n.1230-5602G>A | |
| ENST00000706843.1:c.1221-5602G>A | ENSP00000516584.1:n.1221-5602G>A | |
| ENST00000706845.1:c.*931-5602G>A | ENSP00000516587.1:n.*931-5602G>A | |
| ENST00000706846.1:c.1098-5602G>A | ENSP00000516588.1:n.1098-5602G>A | |
| ENST00000706867.1:c.1179-5602G>A | ENSP00000516594.1:n.1179-5602G>A | |
| ENST00000706868.1:c.1098-5602G>A | ENSP00000516595.1:n.1098-5602G>A | |
| ENST00000706869.1:n.310-79021G>A | ||
| ENST00000706870.1:n.1135-5602G>A | ||
| ENST00000706883.1:c.-115-5602G>A | ENSP00000516600.1:n.-115-5602G>A | |
| ENST00000706884.1:n.1423-5602G>A | ||
| ENST00000706885.1:c.963-5602G>A | ENSP00000516601.1:n.963-5602G>A | |
| ENST00000684568.2:c.1098-5602G>A MANE Select | ENSP00000506999.1:n.1098-5602G>A | |
| ENST00000370331.5:c.1230-5602G>A | ENSP00000359356.1:n.1230-5602G>A | |
| ENST00000540033.2:c.1230-5602G>A | ENSP00000440826.2:n.1230-5602G>A | |
| NM_001308248.1:c.1230-5602G>A | NP_001295177.1:n.1230-5602G>A | |
| NM_005665.4:c.1230-5602G>A | NP_005656.4:n.1230-5602G>A | |
| NM_005665.5:c.1230-5602G>A | NP_005656.4:n.1230-5602G>A | |
| XM_011542099.1:c.1302-5602G>A | XP_011540401.1:n.1302-5602G>A | |
| XM_011542100.1:c.1302-5602G>A | XP_011540402.1:n.1302-5602G>A | |
| XM_011542101.1:c.1179-5602G>A | XP_011540403.1:n.1179-5602G>A | |
| XM_011542102.1:c.1302-5602G>A | XP_011540404.1:n.1302-5602G>A | |
| XM_011542103.1:c.1302-5602G>A | XP_011540405.1:n.1302-5602G>A | |
| XM_011542104.1:c.1302-5602G>A | XP_011540406.1:n.1302-5602G>A | |
| XM_011542105.1:c.1302-5602G>A | XP_011540407.1:n.1302-5602G>A | |
| XM_011542107.1:c.1230-5602G>A | XP_011540409.1:n.1230-5602G>A | |
| XM_011542108.1:c.1302-5602G>A | XP_011540410.1:n.1302-5602G>A | |
| XM_011542109.1:c.1302-5602G>A | XP_011540411.1:n.1302-5602G>A | |
| XM_011542110.1:c.1302-5602G>A | XP_011540412.1:n.1302-5602G>A | |
| XM_011542111.1:c.1302-5602G>A | XP_011540413.1:n.1302-5602G>A | |
| NM_001350197.1:c.1098-5602G>A | NP_001337126.1:n.1098-5602G>A | |
| NM_001350198.1:c.1098-5602G>A | NP_001337127.1:n.1098-5602G>A | |
| XM_017002269.1:c.1311-5602G>A | XP_016857758.1:n.1311-5602G>A | |
| XM_017002270.2:c.1302-5602G>A | XP_016857759.1:n.1302-5602G>A | |
| XM_017002271.2:c.1230-5602G>A | XP_016857760.1:n.1230-5602G>A | |
| XM_017002272.1:c.1311-5602G>A | XP_016857761.1:n.1311-5602G>A | |
| XM_017002273.2:c.1179-5602G>A | XP_016857762.1:n.1179-5602G>A | |
| XM_017002274.1:c.1179-5602G>A | XP_016857763.1:n.1179-5602G>A | |
| XM_017002275.1:c.1179-5602G>A | XP_016857764.1:n.1179-5602G>A | |
| XM_017002276.2:c.1098-5602G>A | XP_016857765.1:n.1098-5602G>A | |
| XM_017002277.1:c.1230-5602G>A | XP_016857766.1:n.1230-5602G>A | |
| XM_017002278.1:c.1311-5602G>A | XP_016857767.1:n.1311-5602G>A | |
| XM_017002279.1:c.1044-5602G>A | XP_016857768.1:n.1044-5602G>A | |
| XM_017002281.2:c.1221-5602G>A | XP_016857770.1:n.1221-5602G>A | |
| XM_017002282.1:c.1311-5602G>A | XP_016857771.1:n.1311-5602G>A | |
| XM_017002283.1:c.1230-5602G>A | XP_016857772.1:n.1230-5602G>A | |
| XM_017002284.2:c.1098-5602G>A | XP_016857773.1:n.1098-5602G>A | |
| XM_017002286.2:c.687-5602G>A | XP_016857775.1:n.687-5602G>A | |
| XM_017002287.2:c.687-5602G>A | XP_016857776.1:n.687-5602G>A | |
| XM_017002288.1:c.687-5602G>A | XP_016857777.1:n.687-5602G>A | |
| XM_024449686.1:c.1230-5602G>A | XP_024305454.1:n.1230-5602G>A | |
| XM_024449689.1:c.1311-5602G>A | XP_024305457.1:n.1311-5602G>A | |
| XM_024449690.1:c.963-5602G>A | XP_024305458.1:n.963-5602G>A | |
| XR_001737401.1:n.1319-5602G>A | ||
| NM_001308248.2:c.1230-5602G>A | NP_001295177.1:n.1230-5602G>A | |
| NM_001350197.2:c.1098-5602G>A MANE Select | NP_001337126.1:n.1098-5602G>A | |
| NM_001350198.2:c.1098-5602G>A | NP_001337127.1:n.1098-5602G>A | |
| NM_001377210.1:c.1221-5602G>A | NP_001364139.1:n.1221-5602G>A | |
| NM_001377211.1:c.1098-5602G>A | NP_001364140.1:n.1098-5602G>A | |
| NM_001377212.1:c.1098-5602G>A | NP_001364141.1:n.1098-5602G>A | |
| NM_001377213.1:c.1179-5602G>A | NP_001364142.1:n.1179-5602G>A | |
| NM_005665.6:c.1230-5602G>A | NP_005656.4:n.1230-5602G>A |