Linked Data
dbSNP Id:
rs2404602
gnomAD v2:
15-77030792-A-G
gnomAD v3:
15-76738451-A-G
gnomAD v4:
15-76738451-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76738451A>G , CM000677.2:g.76738451A>G | GRCh38 |
| NC_000015.9:g.77030792A>G , CM000677.1:g.77030792A>G | GRCh37 |
| NC_000015.8:g.74817847A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563290.6:c.1867-5067T>C MANE Select | ENSP00000454973.1:n.1867-5067T>C | |
| ENST00000303521.10:n.1931-5067T>C | ||
| ENST00000324767.11:c.1867-5067T>C | ENSP00000326924.7:n.1867-5067T>C | |
| ENST00000538941.6:c.1129-5067T>C | ENSP00000442190.2:n.1129-5067T>C | |
| ENST00000563290.5:c.1867-5067T>C | ENSP00000454973.1:n.1867-5067T>C | |
| ENST00000564590.5:c.1885-5067T>C | ENSP00000456508.1:n.1885-5067T>C | |
| ENST00000565507.5:c.*1706-5067T>C | ENSP00000455623.1:n.*1706-5067T>C | |
| ENST00000565970.5:c.1885-5067T>C | ENSP00000455378.1:n.1885-5067T>C | |
| NM_001145923.1:c.1129-5067T>C | NP_001139395.1:n.1129-5067T>C | |
| NM_020843.2:c.1867-5067T>C | NP_065894.2:n.1867-5067T>C | |
| XM_005254417.2:c.1885-5067T>C | XP_005254474.1:n.1885-5067T>C | |
| XM_005254419.2:c.1867-5067T>C | XP_005254476.1:n.1867-5067T>C | |
| XM_011521648.1:c.2041-5067T>C | XP_011519950.1:n.2041-5067T>C | |
| XM_011521649.1:c.2023-5067T>C | XP_011519951.1:n.2023-5067T>C | |
| XM_011521650.1:c.1885-5067T>C | XP_011519952.1:n.1885-5067T>C | |
| XM_011521651.1:c.2041-5067T>C | XP_011519953.1:n.2041-5067T>C | |
| XM_011521652.1:c.1837-5067T>C | XP_011519954.1:n.1837-5067T>C | |
| XM_011521653.1:c.1483-5067T>C | XP_011519955.1:n.1483-5067T>C | |
| XM_011521654.1:c.1147-5067T>C | XP_011519956.1:n.1147-5067T>C | |
| XM_011521655.1:c.2041-5067T>C | XP_011519957.1:n.2041-5067T>C | |
| XM_011521656.1:c.24+851T>C | XP_011519958.1:n.24+851T>C | |
| NM_001353009.1:c.1885-5067T>C | NP_001339938.1:n.1885-5067T>C | |
| NM_001353010.1:c.1465-5067T>C | NP_001339939.1:n.1465-5067T>C | |
| NM_001353011.1:c.1483-5067T>C | NP_001339940.1:n.1483-5067T>C | |
| NM_001353012.1:c.1465-5067T>C | NP_001339941.1:n.1465-5067T>C | |
| NM_020843.3:c.1867-5067T>C | NP_065894.2:n.1867-5067T>C | |
| NR_148227.1:n.2142-5067T>C | ||
| XM_011521653.3:c.1483-5067T>C | XP_011519955.1:n.1483-5067T>C | |
| XM_011521656.3:c.24+851T>C | XP_011519958.1:n.24+851T>C | |
| XM_017022268.1:c.1885-5067T>C | XP_016877757.1:n.1885-5067T>C | |
| XM_017022269.1:c.1867-5067T>C | XP_016877758.1:n.1867-5067T>C | |
| XM_017022270.1:c.1867-5067T>C | XP_016877759.1:n.1867-5067T>C | |
| XM_017022272.1:c.1885-5067T>C | XP_016877761.1:n.1885-5067T>C | |
| XM_017022273.1:c.1465-5067T>C | XP_016877762.1:n.1465-5067T>C | |
| XM_017022275.2:c.1042-5067T>C | XP_016877764.1:n.1042-5067T>C | |
| XM_017022276.1:c.1042-5067T>C | XP_016877765.1:n.1042-5067T>C | |
| XM_017022277.2:c.1024-5067T>C | XP_016877766.1:n.1024-5067T>C | |
| XM_017022278.2:c.1024-5067T>C | XP_016877767.1:n.1024-5067T>C | |
| XM_017022283.1:c.1867-5067T>C | XP_016877772.1:n.1867-5067T>C | |
| XM_024449937.1:c.1483-5067T>C | XP_024305705.1:n.1483-5067T>C | |
| XM_024449938.1:c.1147-5067T>C | XP_024305706.1:n.1147-5067T>C | |
| XM_024449939.1:c.1129-5067T>C | XP_024305707.1:n.1129-5067T>C | |
| XM_024449940.1:c.1483-5067T>C | XP_024305708.1:n.1483-5067T>C | |
| XM_024449941.1:c.1483-5067T>C | XP_024305709.1:n.1483-5067T>C | |
| XM_024449942.1:c.1483-5067T>C | XP_024305710.1:n.1483-5067T>C | |
| XM_024449943.1:c.1483-5067T>C | XP_024305711.1:n.1483-5067T>C | |
| XM_024449944.1:c.1483-5067T>C | XP_024305712.1:n.1483-5067T>C | |
| XR_002957646.1:n.1754-5067T>C | ||
| XR_002957647.1:n.1754-5067T>C | ||
| NM_020843.4:c.1867-5067T>C MANE Select | NP_065894.2:n.1867-5067T>C | |
| NM_001353009.2:c.1885-5067T>C | NP_001339938.1:n.1885-5067T>C | |
| NM_001353010.2:c.1465-5067T>C | NP_001339939.1:n.1465-5067T>C | |
| NM_001353011.2:c.1483-5067T>C | NP_001339940.1:n.1483-5067T>C | |
| NM_001353012.2:c.1465-5067T>C | NP_001339941.1:n.1465-5067T>C | |
| NR_148227.2:n.2025-5067T>C | ||
| NM_001145923.2:c.1129-5067T>C | NP_001139395.1:n.1129-5067T>C |