Linked Data
dbSNP Id:
rs879619930
gnomAD v2:
15-48707710-T-G
gnomAD v3:
15-48415513-T-G
gnomAD v4:
15-48415513-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415513T>G , CM000677.2:g.48415513T>G | GRCh38 |
| NC_000015.9:g.48707710T>G , CM000677.1:g.48707710T>G | GRCh37 |
| NC_000015.8:g.46495002T>G | NCBI36 |
| NG_008805.2:g.235276A>C , LRG_778:g.235276A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*859+23A>C | ENSP00000453958.2:n.*859+23A>C | |
| ENST00000674301.2:c.*1564+23A>C | ENSP00000501333.2:n.*1564+23A>C | |
| ENST00000682158.1:n.1432+23A>C | ||
| ENST00000682170.1:n.2232+23A>C | ||
| ENST00000682767.1:n.1348+23A>C | ||
| ENST00000316623.10:c.8051+23A>C MANE Select | ENSP00000325527.5:n.8051+23A>C | |
| ENST00000674301.1:c.3217+23A>C | ENSP00000501333.1:n.3217+23A>C | |
| ENST00000316623.9:c.8051+23A>C | ENSP00000325527.5:n.8051+23A>C | |
| ENST00000559133.5:c.3420+23A>C | ||
| ENST00000561429.1:n.306+23A>C | ||
| NM_000138.4:c.8051+23A>C , LRG_778t1:c.8051+23A>C | NP_000129.3:n.8051+23A>C | |
| NM_000138.5:c.8051+23A>C MANE Select | NP_000129.3:n.8051+23A>C |