Linked Data
dbSNP Id:
rs1352217777
gnomAD v2:
13-28602341-T-C
gnomAD v3:
13-28028204-T-C
gnomAD v4:
13-28028204-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28028204T>C , CM000675.2:g.28028204T>C | GRCh38 |
| NC_000013.10:g.28602341T>C , CM000675.1:g.28602341T>C | GRCh37 |
| NC_000013.9:g.27500341T>C | NCBI36 |
| NG_007066.1:g.77365A>G , LRG_457:g.77365A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.2027A>G MANE Select | ENSP00000241453.7:p.Asn676Ser | |
| ENST00000241453.11:c.2027A>G | ENSP00000241453.7:p.Asn676Ser | |
| ENST00000380987.2:c.2027A>G | ENSP00000370374.2:p.Asn676Ser | |
| NM_004119.2:c.2027A>G , LRG_457t1:c.2027A>G | NP_004110.2:p.Asn676Ser | |
| NR_130706.1:n.2109A>G | ||
| XM_011535015.1:c.1970A>G | XP_011533317.1:p.Asn657Ser | |
| XM_011535016.1:c.1502A>G | XP_011533318.1:p.Asn501Ser | |
| XM_011535017.1:c.1502A>G | XP_011533319.1:p.Asn501Ser | |
| XM_011535018.1:c.1502A>G | XP_011533320.1:p.Asn501Ser | |
| XM_011535015.2:c.1970A>G | XP_011533317.1:p.Asn657Ser | |
| XM_011535017.2:c.1502A>G | XP_011533319.1:p.Asn501Ser | |
| XM_011535018.2:c.1502A>G | XP_011533320.1:p.Asn501Ser | |
| XM_017020486.1:c.1811A>G | XP_016875975.1:p.Asn604Ser | |
| XM_017020487.1:c.1502A>G | XP_016875976.1:p.Asn501Ser | |
| XM_017020488.1:c.1148A>G | XP_016875977.1:p.Asn383Ser | |
| XM_017020489.1:c.1130A>G | XP_016875978.1:p.Asn377Ser | |
| NM_004119.3:c.2027A>G MANE Select | NP_004110.2:p.Asn676Ser | |
| NR_130706.2:n.2093A>G |