Linked Data
dbSNP Id:
rs2325813
gnomAD v2:
2-238462782-T-C
gnomAD v3:
2-237554139-T-C
gnomAD v4:
2-237554139-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237554139T>C , CM000664.2:g.237554139T>C | GRCh38 |
| NC_000002.11:g.238462782T>C , CM000664.1:g.238462782T>C | GRCh37 |
| NC_000002.10:g.238127521T>C | NCBI36 |
| NG_007286.1:g.71853T>C , LRG_83:g.71853T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264605.8:c.*547T>C MANE Select | ENSP00000264605.3:n.*547T>C | |
| ENST00000264605.7:c.*547T>C | ENSP00000264605.3:n.*547T>C | |
| NM_001042467.2:c.*547T>C | NP_001035932.1:n.*547T>C | |
| NM_001281473.1:c.*547T>C | NP_001268402.1:n.*547T>C | |
| NM_001281474.1:c.*547T>C | NP_001268403.1:n.*547T>C | |
| NM_024101.6:c.*547T>C | NP_077006.1:n.*547T>C | |
| NR_104019.1:n.2782T>C | ||
| NM_024101.7:c.*547T>C MANE Select | NP_077006.1:n.*547T>C | |
| NM_001042467.3:c.*547T>C | NP_001035932.1:n.*547T>C | |
| NM_001281473.2:c.*547T>C | NP_001268402.1:n.*547T>C | |
| NM_001281474.2:c.*547T>C | NP_001268403.1:n.*547T>C | |
| NR_104019.2:n.2750T>C |