Linked Data
dbSNP Id:
rs10748835
gnomAD v2:
10-104660256-G-A
gnomAD v3:
10-102900499-G-A
gnomAD v4:
10-102900499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102900499G>A , CM000672.2:g.102900499G>A | GRCh38 |
| NC_000010.10:g.104660256G>A , CM000672.1:g.104660256G>A | GRCh37 |
| NC_000010.9:g.104650246G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369880.8:c.1021-94G>A (AS3MT) MANE Select | ENSP00000358896.3:n.1021-94G>A | |
| ENST00000299353.6:c.*1028-94G>A (BORCS7-ASMT) | ENSP00000299353.5:n.*1028-94G>A | |
| ENST00000369880.7:c.1021-94G>A (AS3MT) | ENSP00000358896.3:n.1021-94G>A | |
| ENST00000615257.1:c.*3-94G>A (AS3MT) | ENSP00000479361.1:n.*3-94G>A | |
| NM_020682.3:c.1021-94G>A (AS3MT) | NP_065733.2:n.1021-94G>A | |
| NR_037644.1:n.1426-94G>A (BORCS7-ASMT) | ||
| XM_017017027.1:c.458C>T | XP_016872516.1:p.Thr153Ile | |
| XR_001747577.1:n.180C>T | ||
| XR_001747578.1:n.356C>T | ||
| NM_020682.4:c.1021-94G>A (AS3MT) MANE Select | NP_065733.2:n.1021-94G>A | |
| NR_160733.1:n.180C>T |