Linked Data
dbSNP Id:
rs1378786764
gnomAD v2:
2-97427238-T-C
gnomAD v4:
2-96761501-T-C
COSMIC:
COSM4583712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761501T>C , CM000664.2:g.96761501T>C | GRCh38 |
| NC_000002.11:g.97427238T>C , CM000664.1:g.97427238T>C | GRCh37 |
| NC_000002.10:g.96790965T>C | NCBI36 |
| NG_016608.1:g.5600T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.502T>C MANE Select | ENSP00000366275.2:p.Ser168Pro | |
| ENST00000377075.2:c.502T>C | ENSP00000366275.2:p.Ser168Pro | |
| NM_020184.3:c.502T>C | NP_064569.3:p.Ser168Pro | |
| XM_005263914.2:c.502T>C | XP_005263971.1:p.Ser168Pro | |
| XM_005263915.2:c.502T>C | XP_005263972.1:p.Ser168Pro | |
| XM_011510955.1:c.502T>C | XP_011509257.1:p.Ser168Pro | |
| XM_011510956.1:c.502T>C | XP_011509258.1:p.Ser168Pro | |
| XM_005263914.4:c.502T>C | XP_005263971.1:p.Ser168Pro | |
| XM_005263915.4:c.502T>C | XP_005263972.1:p.Ser168Pro | |
| XM_011510955.3:c.502T>C | XP_011509257.1:p.Ser168Pro | |
| XM_011510956.3:c.502T>C | XP_011509258.1:p.Ser168Pro | |
| NM_020184.4:c.502T>C MANE Select | NP_064569.3:p.Ser168Pro |