Linked Data
dbSNP Id:
rs779864199
ExAC:
6:18143934 CT / C
gnomAD v2:
6-18143934-CT-C
gnomAD v3:
6-18143703-CT-C
gnomAD v4:
6-18143703-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18143704del , CM000668.2:g.18143704del | GRCh38 |
| NC_000006.11:g.18143935del , CM000668.1:g.18143935del | GRCh37 |
| NC_000006.10:g.18251914del | NCBI36 |
| NG_012137.2:g.16440del | |
| NG_012137.3:g.16440del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.258del MANE Select | ENSP00000312304.4:p.Val87LeufsTer? | |
| ENST00000309983.4:c.258del | ENSP00000312304.4:p.Val87LeufsTer? | |
| NM_000367.3:c.258del | NP_000358.1:p.Val87LeufsTer? | |
| XM_011514839.1:c.258del | XP_011513141.1:p.Val87LeufsTer? | |
| XM_011514840.1:c.189del | XP_011513142.1:p.Val64LeufsTer? | |
| NM_000367.4:c.258del | NP_000358.1:p.Val87LeufsTer? | |
| NM_001346817.1:c.258del | NP_001333746.1:p.Val87LeufsTer? | |
| NM_001346818.1:c.258del | NP_001333747.1:p.Val87LeufsTer? | |
| NM_000367.5:c.258del MANE Select | NP_000358.1:p.Val87LeufsTer? |