Linked Data
dbSNP Id:
rs752250037
ExAC:
7:92733187 C / G
gnomAD v2:
7-92733187-C-G
gnomAD v4:
7-93103874-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93103874C>G , CM000669.2:g.93103874C>G | GRCh38 |
| NC_000007.13:g.92733187C>G , CM000669.1:g.92733187C>G | GRCh37 |
| NC_000007.12:g.92571123C>G | NCBI36 |
| NG_023419.1:g.19150G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.2224G>C MANE Select | ENSP00000369292.2:p.Gly742Arg | |
| ENST00000379958.2:c.2224G>C | ENSP00000369292.2:p.Gly742Arg | |
| ENST00000446617.1:c.2224G>C | ENSP00000414529.1:p.Gly742Arg | |
| ENST00000620985.4:c.2224G>C | ENSP00000484636.1:p.Gly742Arg | |
| NM_001193307.1:c.2224G>C | NP_001180236.1:p.Gly742Arg | |
| NM_017654.3:c.2224G>C | NP_060124.2:p.Gly742Arg | |
| NM_017654.4:c.2224G>C MANE Select | NP_060124.2:p.Gly742Arg | |
| NM_001193307.2:c.2224G>C | NP_001180236.1:p.Gly742Arg |