Linked Data
dbSNP Id:
rs377482112
ExAC:
18:21508037 C / T
gnomAD v2:
18-21508037-C-T
gnomAD v3:
18-23928073-C-T
gnomAD v4:
18-23928073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928073C>T , CM000680.2:g.23928073C>T | GRCh38 |
| NC_000018.9:g.21508037C>T , CM000680.1:g.21508037C>T | GRCh37 |
| NC_000018.8:g.19762035C>T | NCBI36 |
| NG_007853.2:g.243476C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.3351-50C>T MANE Plus Clinical | ENSP00000269217.5:n.3351-50C>T | |
| ENST00000313654.14:c.8178-50C>T MANE Select | ENSP00000324532.8:n.8178-50C>T | |
| ENST00000649721.1:c.4773-50C>T | ENSP00000497885.1:n.4773-50C>T | |
| ENST00000269217.10:c.3351-50C>T | ENSP00000269217.5:n.3351-50C>T | |
| ENST00000313654.13:c.8178-50C>T | ENSP00000324532.8:n.8178-50C>T | |
| ENST00000399516.7:c.8010-50C>T | ENSP00000382432.2:n.8010-50C>T | |
| ENST00000586751.5:c.2956-50C>T | ||
| ENST00000587184.5:c.3183-50C>T | ENSP00000466557.1:n.3183-50C>T | |
| ENST00000588770.5:n.2756-50C>T | ||
| NM_000227.4:c.3351-50C>T | NP_000218.3:n.3351-50C>T | |
| NM_001127717.2:c.8010-50C>T | NP_001121189.2:n.8010-50C>T | |
| NM_001127718.2:c.3183-50C>T | NP_001121190.2:n.3183-50C>T | |
| NM_198129.2:c.8178-50C>T | NP_937762.2:n.8178-50C>T | |
| XM_011525978.1:c.8205-50C>T | XP_011524280.1:n.8205-50C>T | |
| XM_011525979.1:c.8196-50C>T | XP_011524281.1:n.8196-50C>T | |
| XM_011525980.1:c.8187-50C>T | XP_011524282.1:n.8187-50C>T | |
| XM_011525981.1:c.8073-50C>T | XP_011524283.1:n.8073-50C>T | |
| XM_011525982.1:c.7908-50C>T | XP_011524284.1:n.7908-50C>T | |
| XM_011525978.2:c.8205-50C>T | XP_011524280.1:n.8205-50C>T | |
| XM_011525979.2:c.8196-50C>T | XP_011524281.1:n.8196-50C>T | |
| XM_011525980.2:c.8187-50C>T | XP_011524282.1:n.8187-50C>T | |
| XM_011525981.2:c.8073-50C>T | XP_011524283.1:n.8073-50C>T | |
| XM_011525982.2:c.7908-50C>T | XP_011524284.1:n.7908-50C>T | |
| XM_017025743.1:c.6057-50C>T | XP_016881232.1:n.6057-50C>T | |
| XM_017025744.1:c.3747-50C>T | XP_016881233.1:n.3747-50C>T | |
| XR_001753199.1:n.8446-50C>T | ||
| NM_000227.5:c.3351-50C>T | NP_000218.3:n.3351-50C>T | |
| NM_001127717.3:c.8010-50C>T | NP_001121189.2:n.8010-50C>T | |
| NM_001127718.3:c.3183-50C>T | NP_001121190.2:n.3183-50C>T | |
| NM_198129.3:c.8178-50C>T | NP_937762.2:n.8178-50C>T | |
| NM_000227.6:c.3351-50C>T MANE Plus Clinical | NP_000218.3:n.3351-50C>T | |
| NM_001127717.4:c.8010-50C>T | NP_001121189.2:n.8010-50C>T | |
| NM_001127718.4:c.3183-50C>T | NP_001121190.2:n.3183-50C>T | |
| NM_198129.4:c.8178-50C>T MANE Select | NP_937762.2:n.8178-50C>T |