Linked Data
dbSNP Id:
rs2479106
gnomAD v2:
9-126525212-A-G
gnomAD v3:
9-123762933-A-G
gnomAD v4:
9-123762933-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123762933A>G , CM000671.2:g.123762933A>G | GRCh38 |
| NC_000009.11:g.126525212A>G , CM000671.1:g.126525212A>G | GRCh37 |
| NC_000009.10:g.125565033A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394215.7:c.183-5111T>C MANE Select | ENSP00000377763.4:n.183-5111T>C | |
| ENST00000373618.1:c.87-5111T>C | ENSP00000362720.1:n.87-5111T>C | |
| ENST00000373620.7:c.183-5111T>C | ENSP00000362722.3:n.183-5111T>C | |
| ENST00000373624.6:c.183-5111T>C | ENSP00000362727.2:n.183-5111T>C | |
| ENST00000473039.5:n.350-5111T>C | ||
| NM_020946.1:c.183-5111T>C | NP_065997.1:n.183-5111T>C | |
| NM_024820.2:c.183-5111T>C | NP_079096.2:n.183-5111T>C | |
| XM_005252109.2:c.183-5111T>C | XP_005252166.1:n.183-5111T>C | |
| XM_005252111.3:c.228-5111T>C | XP_005252168.1:n.228-5111T>C | |
| XM_005252113.3:c.228-5111T>C | XP_005252170.1:n.228-5111T>C | |
| XM_006717195.2:c.228-5111T>C | XP_006717258.1:n.228-5111T>C | |
| XM_011518882.1:c.228-5111T>C | XP_011517184.1:n.228-5111T>C | |
| XM_011518883.1:c.228-5111T>C | XP_011517185.1:n.228-5111T>C | |
| XM_011518884.1:c.141-5111T>C | XP_011517186.1:n.141-5111T>C | |
| XM_011518885.1:c.120-5111T>C | XP_011517187.1:n.120-5111T>C | |
| XM_011518886.1:c.228-5111T>C | XP_011517188.1:n.228-5111T>C | |
| XM_011518887.1:c.228-5111T>C | XP_011517189.1:n.228-5111T>C | |
| XR_929829.1:n.1216-5111T>C | ||
| XR_929830.1:n.1213-5111T>C | ||
| NM_001352964.1:c.183-5111T>C | NP_001339893.1:n.183-5111T>C | |
| NM_001352965.1:c.87-5111T>C | NP_001339894.1:n.87-5111T>C | |
| NM_001352966.1:c.93-5111T>C | NP_001339895.1:n.93-5111T>C | |
| NM_001352967.1:c.87-5111T>C | NP_001339896.1:n.87-5111T>C | |
| NM_001352968.1:c.87-5111T>C | NP_001339897.1:n.87-5111T>C | |
| NR_148208.1:n.416-5111T>C | ||
| XM_005252111.4:c.228-5111T>C | XP_005252168.1:n.228-5111T>C | |
| XM_005252113.5:c.228-5111T>C | XP_005252170.1:n.228-5111T>C | |
| XM_006717195.4:c.228-5111T>C | XP_006717258.1:n.228-5111T>C | |
| XM_011518882.3:c.228-5111T>C | XP_011517184.1:n.228-5111T>C | |
| XM_011518883.3:c.228-5111T>C | XP_011517185.1:n.228-5111T>C | |
| XM_011518885.3:c.120-5111T>C | XP_011517187.1:n.120-5111T>C | |
| XM_011518886.3:c.228-5111T>C | XP_011517188.1:n.228-5111T>C | |
| XM_011518887.3:c.228-5111T>C | XP_011517189.1:n.228-5111T>C | |
| XM_017014948.2:c.183-5111T>C | XP_016870437.1:n.183-5111T>C | |
| XM_017014949.2:c.228-5111T>C | XP_016870438.1:n.228-5111T>C | |
| XM_017014950.2:c.228-5111T>C | XP_016870439.1:n.228-5111T>C | |
| XM_017014951.2:c.87-5111T>C | XP_016870440.1:n.87-5111T>C | |
| XM_017014952.2:c.-549-5111T>C | XP_016870441.1:n.-549-5111T>C | |
| XM_024447621.1:c.87-5111T>C | XP_024303389.1:n.87-5111T>C | |
| XM_024447622.1:c.93-5111T>C | XP_024303390.1:n.93-5111T>C | |
| XM_024447624.1:c.228-5111T>C | XP_024303392.1:n.228-5111T>C | |
| XR_929829.2:n.1225-5111T>C | ||
| XR_929830.3:n.1222-5111T>C | ||
| NM_001352966.2:c.93-5111T>C | NP_001339895.1:n.93-5111T>C | |
| NM_001352967.2:c.87-5111T>C | NP_001339896.1:n.87-5111T>C | |
| NM_001352968.2:c.87-5111T>C | NP_001339897.1:n.87-5111T>C | |
| NM_024820.3:c.183-5111T>C | NP_079096.2:n.183-5111T>C | |
| NR_148208.2:n.404-5111T>C | ||
| NM_001352964.2:c.183-5111T>C MANE Select | NP_001339893.1:n.183-5111T>C | |
| NM_001352965.2:c.87-5111T>C | NP_001339894.1:n.87-5111T>C | |
| NM_001393654.1:c.183-5111T>C | NP_001380583.1:n.183-5111T>C | |
| NM_020946.2:c.183-5111T>C | NP_065997.1:n.183-5111T>C | |
| NM_001400446.1:c.93-5111T>C | NP_001387375.1:n.93-5111T>C | |
| NM_001400449.1:c.87-5111T>C | NP_001387378.1:n.87-5111T>C |