Linked Data
dbSNP Id:
rs2071292
ExAC:
6:32155948 A / G
gnomAD v2:
6-32155948-A-G
gnomAD v3:
6-32188171-A-G
gnomAD v4:
6-32188171-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32188171A>G , CM000668.2:g.32188171A>G | GRCh38 |
| NC_000006.11:g.32155948A>G , CM000668.1:g.32155948A>G | GRCh37 |
| NC_000006.10:g.32263926A>G | NCBI36 |
| NG_029868.1:g.1152T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375050.6:c.544-15T>C MANE Select | ENSP00000364190.3:n.544-15T>C | |
| ENST00000375050.5:c.544-15T>C | ENSP00000364190.3:n.544-15T>C | |
| ENST00000478678.5:n.571-15T>C | ||
| ENST00000496171.1:n.561-15T>C | ||
| NM_002586.4:c.544-15T>C | NP_002577.2:n.544-15T>C | |
| XM_011514647.1:c.199-15T>C | XP_011512949.1:n.199-15T>C | |
| NM_002586.5:c.544-15T>C MANE Select | NP_002577.2:n.544-15T>C |