Linked Data
dbSNP Id:
rs12523547
gnomAD v2:
5-159662724-G-C
gnomAD v3:
5-160235717-G-C
gnomAD v4:
5-160235717-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.160235717G>C , CM000667.2:g.160235717G>C | GRCh38 |
| NC_000005.9:g.159662724G>C , CM000667.1:g.159662724G>C | GRCh37 |
| NC_000005.8:g.159595302G>C | NCBI36 |
| NG_029500.1:g.53351G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402432.4:c.333+808G>C MANE Select | ENSP00000385433.4:n.333+808G>C | |
| ENST00000393980.8:c.480+808G>C | ENSP00000377549.4:n.480+808G>C | |
| ENST00000402432.3:c.333+808G>C | ENSP00000385433.3:n.333+808G>C | |
| ENST00000521362.1:n.329+808G>C | ||
| ENST00000523955.5:c.658+808G>C | ENSP00000428766.1:n.658+808G>C | |
| NM_001040442.1:c.480+808G>C | NP_001035532.1:n.480+808G>C | |
| NM_001130958.1:c.480+808G>C | NP_001124430.1:n.480+808G>C | |
| NM_001445.2:c.333+808G>C | NP_001436.1:n.333+808G>C | |
| XM_006714830.2:c.333+808G>C | XP_006714893.1:n.333+808G>C | |
| XM_011534463.1:c.396+808G>C | XP_011532765.1:n.396+808G>C | |
| NM_001130958.2:c.480+808G>C | NP_001124430.1:n.480+808G>C | |
| NM_001445.3:c.333+808G>C MANE Select | NP_001436.1:n.333+808G>C |