Linked Data
dbSNP Id:
rs1893217
gnomAD v2:
18-12809340-A-G
gnomAD v3:
18-12809341-A-G
gnomAD v4:
18-12809341-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12809341A>G , CM000680.2:g.12809341A>G | GRCh38 |
| NC_000018.9:g.12809340A>G , CM000680.1:g.12809340A>G | GRCh37 |
| NC_000018.8:g.12799340A>G | NCBI36 |
| NG_029116.1:g.79995T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309660.10:c.858+4862T>C MANE Select | ENSP00000311857.3:n.858+4862T>C | |
| ENST00000645191.1:c.561+4862T>C | ENSP00000493693.1:n.561+4862T>C | |
| ENST00000645816.1:c.*447+4862T>C | ENSP00000494336.1:n.*447+4862T>C | |
| ENST00000646492.1:c.561+4862T>C | ENSP00000496181.1:n.561+4862T>C | |
| ENST00000309660.9:c.858+4862T>C | ENSP00000311857.3:n.858+4862T>C | |
| ENST00000327283.7:c.858+4862T>C | ENSP00000320298.3:n.858+4862T>C | |
| ENST00000353319.8:c.858+4862T>C | ENSP00000320546.3:n.858+4862T>C | |
| ENST00000585666.5:c.103+4862T>C | ||
| ENST00000587703.5:c.134-7190T>C | ||
| ENST00000591115.5:c.927+4862T>C | ENSP00000466936.1:n.927+4862T>C | |
| ENST00000591305.5:c.*503+4862T>C | ENSP00000468012.1:n.*503+4862T>C | |
| ENST00000591497.5:c.771+4862T>C | ENSP00000467823.1:n.771+4862T>C | |
| NM_001207013.1:c.927+4862T>C | NP_001193942.1:n.927+4862T>C | |
| NM_001308287.1:c.771+4862T>C | NP_001295216.1:n.771+4862T>C | |
| NM_002828.3:c.858+4862T>C | NP_002819.2:n.858+4862T>C | |
| NM_080422.2:c.858+4862T>C | NP_536347.1:n.858+4862T>C | |
| NM_080423.2:c.858+4862T>C | NP_536348.1:n.858+4862T>C | |
| XM_005258124.2:c.927+4862T>C | XP_005258181.1:n.927+4862T>C | |
| XM_005258125.2:c.927+4862T>C | XP_005258182.1:n.927+4862T>C | |
| XM_011525705.1:c.840+4862T>C | XP_011524007.1:n.840+4862T>C | |
| XM_011525706.1:c.723+4862T>C | XP_011524008.1:n.723+4862T>C | |
| XM_011525707.1:c.390+4862T>C | XP_011524009.1:n.390+4862T>C | |
| XM_005258124.4:c.927+4862T>C | XP_005258181.1:n.927+4862T>C | |
| XM_005258125.4:c.927+4862T>C | XP_005258182.1:n.927+4862T>C | |
| XM_011525705.3:c.840+4862T>C | XP_011524007.1:n.840+4862T>C | |
| XM_011525706.2:c.723+4862T>C | XP_011524008.1:n.723+4862T>C | |
| XM_011525707.2:c.390+4862T>C | XP_011524009.1:n.390+4862T>C | |
| XM_017025884.1:c.858+4862T>C | XP_016881373.1:n.858+4862T>C | |
| XM_017025885.2:c.771+4862T>C | XP_016881374.1:n.771+4862T>C | |
| XM_017025886.1:c.561+4862T>C | XP_016881375.1:n.561+4862T>C | |
| XM_017025887.2:c.561+4862T>C | XP_016881376.1:n.561+4862T>C | |
| XM_017025888.2:c.561+4862T>C | XP_016881377.1:n.561+4862T>C | |
| XM_024451228.1:c.723+4862T>C | XP_024306996.1:n.723+4862T>C | |
| XM_024451229.1:c.561+4862T>C | XP_024306997.1:n.561+4862T>C | |
| XM_024451230.1:c.561+4862T>C | XP_024306998.1:n.561+4862T>C | |
| NM_002828.4:c.858+4862T>C MANE Select | NP_002819.2:n.858+4862T>C | |
| NM_001207013.2:c.927+4862T>C | NP_001193942.1:n.927+4862T>C | |
| NM_080422.3:c.858+4862T>C | NP_536347.1:n.858+4862T>C | |
| NM_080423.3:c.858+4862T>C | NP_536348.1:n.858+4862T>C |