Linked Data
dbSNP Id:
rs833497
gnomAD v2:
18-46608260-T-C
gnomAD v3:
18-49081890-T-C
gnomAD v4:
18-49081890-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49081890T>C , CM000680.2:g.49081890T>C | GRCh38 |
| NC_000018.9:g.46608260T>C , CM000680.1:g.46608260T>C | GRCh37 |
| NC_000018.8:g.44862258T>C | NCBI36 |
| NG_009239.1:g.383820A>G | |
| NG_009239.2:g.383844A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675505.1:c.2025+15512A>G MANE Select | ENSP00000501694.1:n.2025+15512A>G | |
| ENST00000269445.10:c.1860+15512A>G | ENSP00000269445.6:n.1860+15512A>G | |
| ENST00000442713.6:c.1290+15512A>G | ENSP00000395942.2:n.1290+15512A>G | |
| ENST00000577734.1:c.187+11327A>G | ||
| NM_017653.3:c.1860+15512A>G | NP_060123.3:n.1860+15512A>G | |
| XM_006722488.2:c.1955+11327A>G | XP_006722551.1:n.1955+11327A>G | |
| XM_011526036.1:c.1978+11327A>G | XP_011524338.1:n.1978+11327A>G | |
| XM_011526037.1:c.1975+11327A>G | XP_011524339.1:n.1975+11327A>G | |
| XM_011526038.1:c.1975+11327A>G | XP_011524340.1:n.1975+11327A>G | |
| XM_011526040.1:c.1810+11327A>G | XP_011524342.1:n.1810+11327A>G | |
| XM_011526041.1:c.1795+11327A>G | XP_011524343.1:n.1795+11327A>G | |
| NM_001353210.1:c.1857+15512A>G | NP_001340139.1:n.1857+15512A>G | |
| NM_001353211.1:c.1857+15512A>G | NP_001340140.1:n.1857+15512A>G | |
| NM_001353212.1:c.2022+15512A>G | NP_001340141.1:n.2022+15512A>G | |
| NM_001353213.1:c.2022+15512A>G | NP_001340142.1:n.2022+15512A>G | |
| NM_001353214.1:c.2025+15512A>G | NP_001340143.1:n.2025+15512A>G | |
| NM_001353215.1:c.1842+15512A>G | NP_001340144.1:n.1842+15512A>G | |
| NM_001353216.1:c.1677+15512A>G | NP_001340145.1:n.1677+15512A>G | |
| NM_017653.4:c.1860+15512A>G | NP_060123.3:n.1860+15512A>G | |
| XM_006722488.3:c.1955+11327A>G | XP_006722551.1:n.1955+11327A>G | |
| XM_011526036.2:c.1978+11327A>G | XP_011524338.1:n.1978+11327A>G | |
| XM_011526038.2:c.1975+11327A>G | XP_011524340.1:n.1975+11327A>G | |
| XM_011526041.2:c.1795+11327A>G | XP_011524343.1:n.1795+11327A>G | |
| XM_017025795.1:c.1972+11327A>G | XP_016881284.1:n.1972+11327A>G | |
| XM_017025796.2:c.1798+11327A>G | XP_016881285.1:n.1798+11327A>G | |
| XM_017025800.2:c.1674+15512A>G | XP_016881289.1:n.1674+15512A>G | |
| XM_017025801.1:c.1671+15512A>G | XP_016881290.1:n.1671+15512A>G | |
| XR_002958177.1:n.2325+15512A>G | ||
| NM_001353210.3:c.1857+15512A>G | NP_001340139.1:n.1857+15512A>G | |
| NM_001353211.3:c.1857+15512A>G | NP_001340140.1:n.1857+15512A>G | |
| NM_001353212.3:c.2022+15512A>G | NP_001340141.1:n.2022+15512A>G | |
| NM_001353213.3:c.2022+15512A>G | NP_001340142.1:n.2022+15512A>G | |
| NM_001353214.3:c.2025+15512A>G MANE Select | NP_001340143.1:n.2025+15512A>G | |
| NM_001353215.3:c.1842+15512A>G | NP_001340144.1:n.1842+15512A>G | |
| NM_001353216.3:c.1677+15512A>G | NP_001340145.1:n.1677+15512A>G | |
| NM_001374428.1:c.2025+15512A>G | NP_001361357.1:n.2025+15512A>G | |
| NM_001374429.1:c.2019+15512A>G | NP_001361358.1:n.2019+15512A>G | |
| NM_001374430.1:c.2120+11327A>G | NP_001361359.1:n.2120+11327A>G | |
| NM_001374431.1:c.1911+36854A>G | NP_001361360.1:n.1911+36854A>G | |
| NM_001374432.1:c.1899+15512A>G | NP_001361361.1:n.1899+15512A>G | |
| NM_001374433.1:c.1955+11327A>G | NP_001361362.1:n.1955+11327A>G | |
| NM_001374434.1:c.1746+36854A>G | NP_001361363.1:n.1746+36854A>G | |
| NM_001374435.1:c.1743+36854A>G | NP_001361364.1:n.1743+36854A>G | |
| NM_001374436.1:c.1734+15512A>G | NP_001361365.1:n.1734+15512A>G | |
| NM_001374437.1:c.1677+15512A>G | NP_001361366.1:n.1677+15512A>G | |
| NM_001374438.1:c.1674+15512A>G | NP_001361367.1:n.1674+15512A>G | |
| NM_001374439.1:c.1671+15512A>G | NP_001361368.1:n.1671+15512A>G | |
| NM_001374440.1:c.1632+15512A>G | NP_001361369.1:n.1632+15512A>G | |
| NM_001374441.1:c.1455+15512A>G | NP_001361370.1:n.1455+15512A>G | |
| NM_001374442.1:c.1290+15512A>G | NP_001361371.1:n.1290+15512A>G | |
| NM_001374443.1:c.1287+15512A>G | NP_001361372.1:n.1287+15512A>G | |
| NM_001374444.1:c.1107+15512A>G | NP_001361373.1:n.1107+15512A>G | |
| NM_017653.6:c.1860+15512A>G | NP_060123.3:n.1860+15512A>G |