Linked Data
dbSNP Id:
rs13126513
gnomAD v2:
4-100444684-T-C
gnomAD v3:
4-99523527-T-C
gnomAD v4:
4-99523527-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99523527T>C , CM000666.2:g.99523527T>C | GRCh38 |
| NC_000004.11:g.100444684T>C , CM000666.1:g.100444684T>C | GRCh37 |
| NC_000004.10:g.100663707T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326581.9:c.337+818T>C MANE Select | ENSP00000322582.4:n.337+818T>C | |
| ENST00000326581.8:c.337+818T>C | ENSP00000322582.4:n.337+818T>C | |
| ENST00000477187.1:c.337+818T>C | ENSP00000423411.1:n.337+818T>C | |
| ENST00000503257.1:n.334+818T>C | ||
| ENST00000514652.5:c.337+818T>C | ENSP00000427663.1:n.337+818T>C | |
| NM_032149.2:c.337+818T>C | NP_115525.2:n.337+818T>C | |
| XM_011532315.1:c.337+818T>C | XP_011530617.1:n.337+818T>C | |
| XM_011532315.2:c.337+818T>C | XP_011530617.1:n.337+818T>C | |
| NM_032149.3:c.337+818T>C MANE Select | NP_115525.2:n.337+818T>C |