Linked Data
dbSNP Id:
rs570895408
ExAC:
19:49564894 A / G
gnomAD v2:
19-49564894-A-G
gnomAD v3:
19-49061637-A-G
gnomAD v4:
19-49061637-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49061637A>G , CM000681.2:g.49061637A>G | GRCh38 |
| NC_000019.9:g.49564894A>G , CM000681.1:g.49564894A>G | GRCh37 |
| NC_000019.8:g.54256706A>G | NCBI36 |
| NG_016289.1:g.7231T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593537.2:c.361T>C MANE Select | ENSP00000469455.1:p.Leu121= | |
| ENST00000594938.2:c.361T>C | ENSP00000512387.1:p.Leu121= | |
| ENST00000595857.6:c.361T>C | ENSP00000471508.2:p.Leu121= | |
| ENST00000696088.1:c.361T>C | ENSP00000512384.1:p.Leu121= | |
| ENST00000696089.1:c.361T>C | ENSP00000512385.1:p.Leu121= | |
| ENST00000696090.1:c.361T>C | ENSP00000512386.1:p.Leu121= | |
| ENST00000696091.1:c.361T>C | ENSP00000512388.1:p.Leu121= | |
| ENST00000593537.1:c.361T>C | ENSP00000469455.1:p.Leu121= | |
| ENST00000595857.5:c.361T>C | ENSP00000471508.1:p.Leu121= | |
| ENST00000599795.5:c.243+118T>C | ENSP00000470689.1:n.243+118T>C | |
| NM_006179.4:c.361T>C | NP_006170.1:p.Leu121= | |
| XM_005258962.2:c.361T>C | XP_005259019.1:p.Leu121= | |
| XM_006723232.2:c.361T>C | XP_006723295.1:p.Leu121= | |
| XM_011527008.1:c.391T>C | XP_011525310.1:p.Leu131= | |
| XM_011527009.1:c.361T>C | XP_011525311.1:p.Leu121= | |
| XM_011527010.1:c.361T>C | XP_011525312.1:p.Leu121= | |
| XM_005258962.3:c.361T>C | XP_005259019.1:p.Leu121= | |
| XM_006723232.3:c.361T>C | XP_006723295.1:p.Leu121= | |
| XM_011527008.2:c.391T>C | XP_011525310.1:p.Leu131= | |
| XM_011527009.2:c.361T>C | XP_011525311.1:p.Leu121= | |
| XM_011527010.2:c.361T>C | XP_011525312.1:p.Leu121= | |
| XR_001753693.1:n.406T>C | ||
| XR_001753694.1:n.406T>C | ||
| NM_001395489.1:c.361T>C | NP_001382418.1:p.Leu121= | |
| NM_006179.5:c.361T>C MANE Select | NP_006170.1:p.Leu121= |