Linked Data
dbSNP Id:
rs1002487
gnomAD v2:
1-26865971-T-C
gnomAD v3:
1-26539480-T-C
gnomAD v4:
1-26539480-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26539480T>C , CM000663.2:g.26539480T>C | GRCh38 |
| NC_000001.10:g.26865971T>C , CM000663.1:g.26865971T>C | GRCh37 |
| NC_000001.9:g.26738558T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374168.7:c.108+2511T>C MANE Select | ENSP00000363283.2:n.108+2511T>C | |
| ENST00000374166.8:c.108+2511T>C | ENSP00000363281.4:n.108+2511T>C | |
| ENST00000374168.6:c.108+2511T>C | ENSP00000363283.2:n.108+2511T>C | |
| ENST00000524436.5:n.254+2511T>C | ||
| ENST00000525525.5:c.*95+2511T>C | ENSP00000434616.1:n.*95+2511T>C | |
| ENST00000526040.6:c.108+2511T>C | ENSP00000436990.1:n.108+2511T>C | |
| ENST00000526792.5:c.-169+2511T>C | ENSP00000431651.1:n.-169+2511T>C | |
| ENST00000529454.5:c.-52+2511T>C | ENSP00000433039.1:n.-52+2511T>C | |
| NM_002953.3:c.108+2511T>C | NP_002944.2:n.108+2511T>C | |
| XM_005245967.2:c.-169+2511T>C | XP_005246024.1:n.-169+2511T>C | |
| XM_011541898.1:c.-169+2511T>C | XP_011540200.1:n.-169+2511T>C | |
| XM_024448871.1:c.-169+2511T>C | XP_024304639.1:n.-169+2511T>C | |
| NM_002953.4:c.108+2511T>C MANE Select | NP_002944.2:n.108+2511T>C |