Linked Data
dbSNP Id:
rs375123237
ExAC:
6:6182253 A / C
gnomAD v2:
6-6182253-A-C
gnomAD v4:
6-6182020-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6182020A>C , CM000668.2:g.6182020A>C | GRCh38 |
| NC_000006.11:g.6182253A>C , CM000668.1:g.6182253A>C | GRCh37 |
| NC_000006.10:g.6127252A>C | NCBI36 |
| NG_008107.1:g.143672T>G , LRG_549:g.143672T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.1427T>G MANE Select | ENSP00000264870.3:p.Met476Arg | |
| ENST00000264870.7:c.1427T>G | ENSP00000264870.3:p.Met476Arg | |
| NM_000129.3:c.1427T>G , LRG_549t1:c.1427T>G | NP_000120.2:p.Met476Arg | |
| XM_006715010.2:c.1427T>G | XP_006715073.1:p.Met476Arg | |
| XM_011514342.1:c.1589T>G | XP_011512644.1:p.Met530Arg | |
| NM_000129.4:c.1427T>G MANE Select | NP_000120.2:p.Met476Arg |