Linked Data
dbSNP Id:
rs1363807032
gnomAD v2:
4-88929465-G-C
gnomAD v3:
4-88008313-G-C
gnomAD v4:
4-88008313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008313G>C , CM000666.2:g.88008313G>C | GRCh38 |
| NC_000004.11:g.88929465G>C , CM000666.1:g.88929465G>C | GRCh37 |
| NC_000004.10:g.89148489G>C | NCBI36 |
| NG_008604.1:g.5646G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.580G>C MANE Select | ENSP00000237596.2:p.Val194Leu | |
| ENST00000237596.6:c.580G>C | ENSP00000237596.2:p.Val194Leu | |
| ENST00000506727.1:n.82G>C | ||
| NM_000297.3:c.580G>C | NP_000288.1:p.Val194Leu | |
| XM_011532028.1:c.580G>C | XP_011530330.1:p.Val194Leu | |
| XR_244632.2:n.675G>C | ||
| NR_156488.1:n.667G>C | ||
| XM_011532028.2:c.580G>C | XP_011530330.1:p.Val194Leu | |
| NM_000297.4:c.580G>C MANE Select | NP_000288.1:p.Val194Leu | |
| NR_156488.2:n.679G>C |