Linked Data
ClinVar Variation Id:
1573009
ClinVar RCV Id:
RCV002215725
dbSNP Id:
rs766044975
ExAC:
9:13109031 T / C
gnomAD v2:
9-13109031-T-C
gnomAD v4:
9-13109032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.13109032T>C , CM000671.2:g.13109032T>C | GRCh38 |
| NC_000009.11:g.13109031T>C , CM000671.1:g.13109031T>C | GRCh37 |
| NC_000009.10:g.13099031T>C | NCBI36 |
| NG_042810.1:g.175533A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319217.12:c.5970A>G MANE Select | ENSP00000320006.7:p.Leu1990= | |
| ENST00000447879.6:c.5871A>G | ENSP00000415208.1:p.Leu1957= | |
| ENST00000319198.10:n.2470A>G | ||
| ENST00000319217.11:c.5970A>G | ENSP00000320006.7:p.Leu1990= | |
| ENST00000381017.6:n.1530A>G | ||
| ENST00000381022.6:c.5871A>G | ENSP00000370410.3:p.Leu1957= | |
| ENST00000438511.5:c.1593A>G | ENSP00000415964.1:p.Leu531= | |
| ENST00000447879.5:c.5871A>G | ENSP00000415208.1:p.Leu1957= | |
| ENST00000536827.5:c.5784A>G | ENSP00000444151.1:p.Leu1928= | |
| ENST00000538841.5:c.2547A>G | ENSP00000444717.1:p.Leu849= | |
| ENST00000539508.5:n.5857A>G | ||
| ENST00000541718.5:c.5883A>G | ENSP00000439807.1:p.Leu1961= | |
| ENST00000542806.5:c.2108A>G | ||
| ENST00000545857.5:c.2778A>G | ENSP00000444230.1:p.Leu926= | |
| ENST00000546205.5:c.6012A>G | ENSP00000446358.1:p.Leu2004= | |
| NM_001261406.1:c.5871A>G | NP_001248335.1:p.Leu1957= | |
| NM_001261407.1:c.5784A>G | NP_001248336.1:p.Leu1928= | |
| NM_003829.4:c.5883A>G | NP_003820.2:p.Leu1961= | |
| XM_005251622.3:c.5970A>G | XP_005251679.1:p.Leu1990= | |
| XM_005251623.3:c.5760A>G | XP_005251680.1:p.Leu1920= | |
| XM_006716885.2:c.5970A>G | XP_006716948.1:p.Leu1990= | |
| XM_006716886.2:c.5970A>G | XP_006716949.1:p.Leu1990= | |
| XM_006716887.2:c.5970A>G | XP_006716950.1:p.Leu1990= | |
| XM_006716888.2:c.5883A>G | XP_006716951.1:p.Leu1961= | |
| XM_006716889.2:c.5871A>G | XP_006716952.1:p.Leu1957= | |
| XM_006716890.2:c.5853A>G | XP_006716953.1:p.Leu1951= | |
| XM_006716891.2:c.5784A>G | XP_006716954.1:p.Leu1928= | |
| NM_001330637.1:c.5970A>G | NP_001317566.1:p.Leu1990= | |
| XM_005251623.4:c.5760A>G | XP_005251680.1:p.Leu1920= | |
| XM_006716885.3:c.5970A>G | XP_006716948.1:p.Leu1990= | |
| XM_006716886.3:c.5970A>G | XP_006716949.1:p.Leu1990= | |
| XM_006716887.4:c.5970A>G | XP_006716950.1:p.Leu1990= | |
| XM_006716888.3:c.5883A>G | XP_006716951.1:p.Leu1961= | |
| XM_006716889.3:c.5871A>G | XP_006716952.1:p.Leu1957= | |
| XM_006716891.3:c.5784A>G | XP_006716954.1:p.Leu1928= | |
| XM_017015252.1:c.5886A>G | XP_016870741.1:p.Leu1962= | |
| XM_017015253.1:c.5784A>G | XP_016870742.1:p.Leu1928= | |
| XM_017015254.1:c.5760A>G | XP_016870743.1:p.Leu1920= | |
| XM_017015255.1:c.5760A>G | XP_016870744.1:p.Leu1920= | |
| XM_017015256.1:c.5673A>G | XP_016870745.1:p.Leu1891= | |
| XM_017015257.1:c.5673A>G | XP_016870746.1:p.Leu1891= | |
| XM_024447708.1:c.5970A>G | XP_024303476.1:p.Leu1990= | |
| XR_002956817.1:n.9000A>G | ||
| NM_001261406.2:c.5871A>G | NP_001248335.1:p.Leu1957= | |
| NM_001261407.2:c.5784A>G | NP_001248336.1:p.Leu1928= | |
| NM_001330637.2:c.5970A>G | NP_001317566.1:p.Leu1990= | |
| NM_001375413.1:c.6069A>G | NP_001362342.1:p.Leu2023= | |
| NM_001375416.1:c.5871A>G | NP_001362345.1:p.Leu1957= | |
| NM_001375417.1:c.5871A>G | NP_001362346.1:p.Leu1957= | |
| NM_001375418.1:c.5871A>G | NP_001362347.1:p.Leu1957= | |
| NM_001375419.1:c.5784A>G | NP_001362348.1:p.Leu1928= | |
| NM_001375420.1:c.5760A>G | NP_001362349.1:p.Leu1920= | |
| NM_001375421.1:c.5760A>G | NP_001362350.1:p.Leu1920= | |
| NM_001375422.1:c.5760A>G | NP_001362351.1:p.Leu1920= | |
| NM_001375423.1:c.5760A>G | NP_001362352.1:p.Leu1920= | |
| NM_001375424.1:c.5760A>G | NP_001362353.1:p.Leu1920= | |
| NM_001375425.1:c.5673A>G | NP_001362354.1:p.Leu1891= | |
| NM_001375426.1:c.5673A>G | NP_001362355.1:p.Leu1891= | |
| NM_001375427.1:c.5562A>G | NP_001362356.1:p.Leu1854= | |
| NM_003829.5:c.5883A>G | NP_003820.2:p.Leu1961= | |
| NM_001378778.1:c.5970A>G MANE Select | NP_001365707.1:p.Leu1990= |