Linked Data
dbSNP Id:
rs34695944
gnomAD v2:
2-61124850-T-C
gnomAD v3:
2-60897715-T-C
gnomAD v4:
2-60897715-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60897715T>C , CM000664.2:g.60897715T>C | GRCh38 |
| NC_000002.11:g.61124850T>C , CM000664.1:g.61124850T>C | GRCh37 |
| NC_000002.10:g.60978354T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699191.1:c.302+3170T>C | ENSP00000514191.1:n.302+3170T>C | |
| ENST00000699192.1:c.302+3170T>C | ENSP00000514192.1:n.302+3170T>C | |
| ENST00000699193.1:c.302+3170T>C | ENSP00000514193.1:n.302+3170T>C | |
| ENST00000699194.1:n.253+3170T>C | ||
| ENST00000394479.4:c.302+3170T>C MANE Select | ENSP00000377989.4:n.302+3170T>C | |
| ENST00000642725.1:c.150-1255T>C | ENSP00000496299.1:n.150-1255T>C | |
| ENST00000295025.12:c.302+3170T>C | ENSP00000295025.7:n.302+3170T>C | |
| ENST00000394479.3:c.302+3170T>C | ENSP00000377989.3:n.302+3170T>C | |
| NM_001291746.1:c.302+3170T>C | NP_001278675.1:n.302+3170T>C | |
| NM_002908.3:c.302+3170T>C | NP_002899.1:n.302+3170T>C | |
| XM_017004627.2:c.302+3170T>C | XP_016860116.1:n.302+3170T>C | |
| NM_001291746.2:c.302+3170T>C MANE Select | NP_001278675.1:n.302+3170T>C | |
| NM_002908.4:c.302+3170T>C | NP_002899.1:n.302+3170T>C |