Linked Data
ClinVar Variation Id:
10127
ClinVar RCV Id:
RCV000010840
dbSNP Id:
rs137852365
PubMed:
PMID:2104741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863103A>G , CM000685.2:g.154863103A>G | GRCh38 |
| NC_000023.10:g.154091378A>G , CM000685.1:g.154091378A>G | GRCh37 |
| NC_000023.9:g.153744572A>G | NCBI36 |
| NG_011403.1:g.164621T>C | |
| NG_011403.2:g.164621T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6554T>C MANE Select | ENSP00000353393.4:p.Leu2185Ser | |
| ENST00000644698.1:c.287T>C | ENSP00000495706.1:p.Leu96Ser | |
| ENST00000330287.10:c.149T>C | ENSP00000327895.6:p.Leu50Ser | |
| ENST00000360256.8:c.6554T>C | ENSP00000353393.4:p.Leu2185Ser | |
| NM_000132.3:c.6554T>C | NP_000123.1:p.Leu2185Ser | |
| NM_019863.2:c.149T>C | NP_063916.1:p.Leu50Ser | |
| XM_011531126.1:c.6449T>C | XP_011529428.1:p.Leu2150Ser | |
| NM_000132.4:c.6554T>C MANE Select | NP_000123.1:p.Leu2185Ser | |
| NM_019863.3:c.149T>C | NP_063916.1:p.Leu50Ser |