Linked Data
ClinVar Variation Id:
587816
ClinVar RCV Id:
RCV002312306
dbSNP Id:
rs587783958
gnomAD v4:
5-37016167-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37016167G>C , CM000667.2:g.37016167G>C | GRCh38 |
| NC_000005.9:g.37016269G>C , CM000667.1:g.37016269G>C | GRCh37 |
| NC_000005.8:g.37052026G>C | NCBI36 |
| NG_006987.1:g.144285G>C | |
| NG_006987.2:g.144285G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.4773G>C MANE Select | ENSP00000282516.8:p.Leu1591= | |
| ENST00000652901.1:c.4773G>C | ENSP00000499536.1:p.Leu1591= | |
| ENST00000282516.12:c.4773G>C | ENSP00000282516.8:p.Leu1591= | |
| ENST00000448238.2:c.4773G>C | ENSP00000406266.2:p.Leu1591= | |
| ENST00000621733.1:c.1-48411G>C | ENSP00000480694.1:n.1-48411G>C | |
| NM_015384.4:c.4773G>C | NP_056199.2:p.Leu1591= | |
| NM_133433.3:c.4773G>C | NP_597677.2:p.Leu1591= | |
| XM_005248280.2:c.4773G>C | XP_005248337.1:p.Leu1591= | |
| XM_005248282.3:c.4029G>C | XP_005248339.2:p.Leu1343= | |
| XM_006714467.2:c.4773G>C | XP_006714530.1:p.Leu1591= | |
| XM_006714468.1:c.4575G>C | XP_006714531.1:p.Leu1525= | |
| XM_011514014.1:c.4392G>C | XP_011512316.1:p.Leu1464= | |
| XM_011514015.1:c.4773G>C | XP_011512317.1:p.Leu1591= | |
| XM_005248280.3:c.4773G>C | XP_005248337.1:p.Leu1591= | |
| XM_005248282.5:c.4113G>C | XP_005248339.3:p.Leu1371= | |
| XM_006714468.2:c.4575G>C | XP_006714531.1:p.Leu1525= | |
| XM_017009329.1:c.4773G>C | XP_016864818.1:p.Leu1591= | |
| XM_017009330.2:c.3156G>C | XP_016864819.1:p.Leu1052= | |
| XM_017009331.1:c.3147G>C | XP_016864820.1:p.Leu1049= | |
| NM_133433.4:c.4773G>C MANE Select | NP_597677.2:p.Leu1591= | |
| NM_015384.5:c.4773G>C | NP_056199.2:p.Leu1591= |