Linked Data
ClinVar Variation Id:
360732
ClinVar RCV Id:
RCV000367992
dbSNP Id:
rs2286824
gnomAD v2:
7-75616171-G-A
gnomAD v3:
7-75986853-G-A
gnomAD v4:
7-75986853-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75986853G>A , CM000669.2:g.75986853G>A | GRCh38 |
| NC_000007.13:g.75616171G>A , CM000669.1:g.75616171G>A | GRCh37 |
| NC_000007.12:g.75454107G>A | NCBI36 |
| NG_008930.1:g.76752G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461988.6:c.*372G>A (POR) MANE Select | ENSP00000419970.1:n.*372G>A | |
| ENST00000493111.7:c.*319C>T (TMEM120A) MANE Select | ENSP00000473983.1:n.*319C>T | |
| ENST00000394893.5:c.*608G>A (POR) | ENSP00000378355.1:n.*608G>A | |
| ENST00000454934.5:c.*1720G>A (POR) | ENSP00000414263.1:n.*1720G>A | |
| ENST00000461988.5:c.*372G>A (POR) | ENSP00000419970.1:n.*372G>A | |
| ENST00000493111.6:c.*319C>T (TMEM120A) | ENSP00000473983.1:n.*319C>T | |
| ENST00000493973.1:n.1026G>A (POR) | ||
| NM_000941.2:c.*372G>A (POR) | NP_000932.3:n.*372G>A | |
| NM_031925.2:c.*319C>T (TMEM120A) | NP_114131.1:n.*319C>T | |
| NM_001317803.1:c.*179C>T (TMEM120A) | NP_001304732.1:n.*179C>T | |
| NM_001363462.1:c.*477C>T (TMEM120A) | NP_001350391.1:n.*477C>T | |
| NR_156695.1:n.1311C>T (TMEM120A) | ||
| NM_000941.3:c.*372G>A (POR) | NP_000932.3:n.*372G>A | |
| NM_001367562.1:c.*372G>A (POR) | NP_001354491.1:n.*372G>A | |
| NM_031925.3:c.*319C>T (TMEM120A) MANE Select | NP_114131.1:n.*319C>T | |
| NM_001317803.2:c.*179C>T (TMEM120A) | NP_001304732.1:n.*179C>T | |
| NM_001363462.2:c.*477C>T (TMEM120A) | NP_001350391.1:n.*477C>T | |
| NR_156695.2:n.1311C>T (TMEM120A) | ||
| NM_001382655.1:c.*372G>A (POR) | NP_001369584.1:n.*372G>A | |
| NM_001382657.1:c.*372G>A (POR) | NP_001369586.1:n.*372G>A | |
| NM_001382658.1:c.*372G>A (POR) | NP_001369587.1:n.*372G>A | |
| NM_001382659.1:c.*372G>A (POR) | NP_001369588.1:n.*372G>A | |
| NM_001382662.1:c.*372G>A (POR) | NP_001369591.1:n.*372G>A | |
| NM_001367562.3:c.*372G>A (POR) | NP_001354491.2:n.*372G>A | |
| NM_001382655.3:c.*372G>A (POR) | NP_001369584.2:n.*372G>A | |
| NM_001382657.2:c.*372G>A (POR) | NP_001369586.2:n.*372G>A | |
| NM_001382658.3:c.*372G>A (POR) | NP_001369587.2:n.*372G>A | |
| NM_001382659.3:c.*372G>A (POR) | NP_001369588.2:n.*372G>A | |
| NM_001382662.3:c.*372G>A (POR) | NP_001369591.2:n.*372G>A | |
| NM_001395413.1:c.*372G>A (POR) MANE Select | NP_001382342.1:n.*372G>A |