Linked Data
ClinVar Variation Id:
347529
ClinVar RCV Id:
RCV000387755
dbSNP Id:
rs767418097
gnomAD v2:
4-128840624-T-G
gnomAD v3:
4-127919469-T-G
gnomAD v4:
4-127919469-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127919469T>G , CM000666.2:g.127919469T>G | GRCh38 |
| NC_000004.11:g.128840624T>G , CM000666.1:g.128840624T>G | GRCh37 |
| NC_000004.10:g.129060074T>G | NCBI36 |
| NG_008657.1:g.51516A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296468.8:c.*1161A>C | ENSP00000296468.3:n.*1161A>C | |
| ENST00000503928.2:n.45-131A>C | ||
| ENST00000515130.6:c.*1603A>C | ENSP00000493056.1:n.*1603A>C | |
| ENST00000641025.1:c.*1603A>C | ENSP00000493346.1:n.*1603A>C | |
| ENST00000641092.1:c.*1603A>C | ENSP00000493392.1:n.*1603A>C | |
| ENST00000641133.1:c.*2719A>C | ENSP00000493192.1:n.*2719A>C | |
| ENST00000641146.1:n.3271A>C | ||
| ENST00000641147.1:c.*1161A>C | ENSP00000493133.1:n.*1161A>C | |
| ENST00000641178.1:c.*1161A>C | ENSP00000492989.1:n.*1161A>C | |
| ENST00000641186.1:c.*1161A>C | ENSP00000493347.1:n.*1161A>C | |
| ENST00000641332.1:c.*1860A>C | ENSP00000493397.1:n.*1860A>C | |
| ENST00000641393.1:c.*1161A>C | ENSP00000493197.1:n.*1161A>C | |
| ENST00000641397.1:c.*1603A>C | ENSP00000493406.1:n.*1603A>C | |
| ENST00000641413.1:c.660-131A>C | ||
| ENST00000641434.1:c.*174-131A>C | ENSP00000493279.1:n.*174-131A>C | |
| ENST00000641464.1:c.*1951A>C | ENSP00000493438.1:n.*1951A>C | |
| ENST00000641482.1:c.*2290A>C | ENSP00000493277.1:n.*2290A>C | |
| ENST00000641508.1:c.*1951A>C | ENSP00000493209.1:n.*1951A>C | |
| ENST00000641509.1:c.*1161A>C | ENSP00000493459.1:n.*1161A>C | |
| ENST00000641686.2:c.*1161A>C MANE Select | ENSP00000493218.2:n.*1161A>C | |
| ENST00000641690.1:c.*1161A>C | ENSP00000492966.1:n.*1161A>C | |
| ENST00000641748.1:c.*74-131A>C | ENSP00000493330.1:n.*74-131A>C | |
| ENST00000641753.1:c.1558-131A>C | ||
| ENST00000641774.1:c.*1970A>C | ENSP00000492960.1:n.*1970A>C | |
| ENST00000641869.1:c.932-131A>C | ||
| ENST00000641870.1:c.*1379-131A>C | ENSP00000493044.1:n.*1379-131A>C | |
| ENST00000641928.1:c.*1847A>C | ENSP00000493418.1:n.*1847A>C | |
| ENST00000642034.1:c.*1603A>C | ENSP00000493285.1:n.*1603A>C | |
| ENST00000296468.7:c.*1161A>C | ENSP00000296468.3:n.*1161A>C | |
| ENST00000503928.1:n.44-131A>C | ||
| ENST00000515130.5:n.3060A>C | ||
| NM_152778.2:c.*1161A>C | NP_689991.1:n.*1161A>C | |
| XM_005262893.1:c.*1161A>C | XP_005262950.1:n.*1161A>C | |
| XM_005262896.1:c.*1161A>C | XP_005262953.1:n.*1161A>C | |
| XM_005262897.1:c.*1161A>C | XP_005262954.1:n.*1161A>C | |
| XM_005262898.2:c.*2290A>C | XP_005262955.1:n.*2290A>C | |
| XM_011531830.1:c.*1161A>C | XP_011530132.1:n.*1161A>C | |
| XM_011531831.1:c.*1161A>C | XP_011530133.1:n.*1161A>C | |
| XM_011531832.1:c.*2290A>C | XP_011530134.1:n.*2290A>C | |
| NM_001363520.1:c.*1161A>C | NP_001350449.1:n.*1161A>C | |
| NM_001363521.1:c.*1161A>C | NP_001350450.1:n.*1161A>C | |
| XM_017007989.1:c.*2290A>C | XP_016863478.1:n.*2290A>C | |
| XM_024453981.1:c.*1161A>C | XP_024309749.1:n.*1161A>C | |
| XM_024453982.1:c.*1161A>C | XP_024309750.1:n.*1161A>C | |
| XM_024453983.1:c.*1161A>C | XP_024309751.1:n.*1161A>C | |
| XR_001741194.1:n.2691A>C | ||
| XR_001741195.1:n.2577A>C | ||
| XR_001741196.1:n.2490A>C | ||
| XR_001741197.1:n.3337A>C | ||
| NM_001363520.2:c.*1161A>C | NP_001350449.1:n.*1161A>C | |
| NM_001363521.2:c.*1161A>C | NP_001350450.1:n.*1161A>C | |
| NM_001371590.1:c.*1161A>C | NP_001358519.1:n.*1161A>C | |
| NM_001371591.1:c.*1161A>C | NP_001358520.1:n.*1161A>C | |
| NM_001371592.1:c.*1161A>C | NP_001358521.1:n.*1161A>C | |
| NM_001371593.1:c.*1161A>C | NP_001358522.1:n.*1161A>C | |
| NM_001371594.1:c.*1161A>C | NP_001358523.1:n.*1161A>C | |
| NM_001371595.1:c.*1161A>C | NP_001358524.1:n.*1161A>C | |
| NM_001371596.2:c.*1161A>C MANE Select | NP_001358525.1:n.*1161A>C | |
| NM_152778.3:c.*1161A>C | NP_689991.1:n.*1161A>C | |
| NM_152778.4:c.*1161A>C | NP_689991.1:n.*1161A>C |