Linked Data
dbSNP Id:
rs2298574
gnomAD v2:
18-25569058-A-G
gnomAD v3:
18-27989094-A-G
gnomAD v4:
18-27989094-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.27989094A>G , CM000680.2:g.27989094A>G | GRCh38 |
| NC_000018.9:g.25569058A>G , CM000680.1:g.25569058A>G | GRCh37 |
| NC_000018.8:g.23823056A>G | NCBI36 |
| NG_011959.1:g.193388T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269141.8:c.1599-428T>C MANE Select | ENSP00000269141.3:n.1599-428T>C | |
| ENST00000413878.2:c.1344-428T>C | ENSP00000414269.2:n.1344-428T>C | |
| ENST00000430882.6:c.1344-428T>C | ENSP00000412120.2:n.1344-428T>C | |
| ENST00000675173.1:c.236-428T>C | ||
| ENST00000675708.1:c.1344-428T>C | ENSP00000501654.1:n.1344-428T>C | |
| ENST00000676041.1:n.1330-428T>C | ||
| ENST00000676445.1:c.1344-428T>C | ENSP00000502206.1:n.1344-428T>C | |
| ENST00000269141.7:c.1599-428T>C | ENSP00000269141.3:n.1599-428T>C | |
| ENST00000399380.7:c.1506-428T>C | ENSP00000382312.3:n.1506-428T>C | |
| NM_001308176.1:c.1506-428T>C | NP_001295105.1:n.1506-428T>C | |
| NM_001792.3:c.1599-428T>C | NP_001783.2:n.1599-428T>C | |
| NM_001792.4:c.1599-428T>C | NP_001783.2:n.1599-428T>C | |
| XM_005258181.2:c.1545-428T>C | XP_005258238.1:n.1545-428T>C | |
| XM_011525787.1:c.1545-428T>C | XP_011524089.1:n.1545-428T>C | |
| XM_011525788.1:c.1344-428T>C | XP_011524090.1:n.1344-428T>C | |
| XM_017025514.2:c.1599-428T>C | XP_016881003.1:n.1599-428T>C | |
| NM_001792.5:c.1599-428T>C MANE Select | NP_001783.2:n.1599-428T>C | |
| NM_001308176.2:c.1506-428T>C | NP_001295105.1:n.1506-428T>C |