Linked Data
dbSNP Id:
rs777964148
ExAC:
11:18357272 C / T
gnomAD v2:
11-18357272-C-T
gnomAD v4:
11-18335725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18335725C>T , CM000673.2:g.18335725C>T | GRCh38 |
| NC_000011.9:g.18357272C>T , CM000673.1:g.18357272C>T | GRCh37 |
| NC_000011.8:g.18313848C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265963.9:c.155-29C>T MANE Select | ENSP00000265963.4:n.155-29C>T | |
| ENST00000265963.8:c.155-29C>T | ENSP00000265963.4:n.155-29C>T | |
| ENST00000418116.6:n.354-29C>T | ||
| ENST00000453096.6:c.155-29C>T | ENSP00000393638.2:n.155-29C>T | |
| ENST00000525831.5:c.155-29C>T | ENSP00000431481.1:n.155-29C>T | |
| ENST00000531757.5:n.425-29C>T | ||
| ENST00000534641.5:c.-1-2384C>T | ENSP00000435375.1:n.-1-2384C>T | |
| ENST00000543932.5:n.568-29C>T | ||
| NM_001142307.1:c.155-29C>T | NP_001135779.1:n.155-29C>T | |
| NM_005316.3:c.155-29C>T | NP_005307.1:n.155-29C>T | |
| XM_006718208.2:c.155-29C>T | XP_006718271.1:n.155-29C>T | |
| XM_006718208.3:c.155-29C>T | XP_006718271.1:n.155-29C>T | |
| XM_024448457.1:c.155-29C>T | XP_024304225.1:n.155-29C>T | |
| XM_024448458.1:c.155-29C>T | XP_024304226.1:n.155-29C>T | |
| NM_005316.4:c.155-29C>T MANE Select | NP_005307.1:n.155-29C>T | |
| NM_001142307.2:c.155-29C>T | NP_001135779.1:n.155-29C>T |